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Showing all entries with Unstable phenotype (Show All):
IthaID | Common Name | Hb Name | HGVS Name | Genes | Functionality | Phenotype | Locus | Position |
---|---|---|---|---|---|---|---|---|
436 | CD 3 TCT>CCT [Ser>Pro] | Hb Central Middlesex | HBA1:c.10T>C | HBA2:c.10T>C | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33785, 37589 |
446 | CD 6 -GAC [-Asp] | Hb Boyle Heights | HBA1:c.19_21delGAC | HBA2:c.19_21delGAC | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33794, 37598 |
447 | CD 6 GAC>GGC [Asp>Gly] | Hb Swan River | HBA2:c.20A>G | α2 | Causative | α-chain variant | NG_000006.1 | 33795 |
451 | CD 7 AAG>AGG [Lys>Arg] | Hb Guanajuato | HBA2:c.23A>G | α2 | Causative | α-chain variant | NG_000006.1 | 33798 |
2433 | CD 13-14 -GCCTGG [-Ala-Trp] | Hb Souli | HBA2:c.40_45delGCCTGG | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 33815 |
486 | CD 23 GAG>GGG [Glu>Gly] | Hb Reims | HBA1:c.71A>G | HBA2:c.71A>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33846, 37650 |
489 | CD 24 TAT>CAT [Tyr>His] | Hb Luxembourg | HBA1:c.73T>C | HBA2:c.73T>C | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 33848, 37652 |
490 | CD 24 TAT>GAT [Tyr>Asp] | Hb Creve Coeur | HBA2:c.73T>G | α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 33848 |
494 | CD GCG>GAG [Ala>Glu] | Hb Shenyang | HBA2:c.80C>A | α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 33855 |
495 | CD 27 GAG>AAG [Glu>Lys] | Hb Shuangfeng | HBA2:c.82G>A | α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 33857 |
497 | CD 27 GAG>GTG [Glu>Val] | Hb Spanish Town | HBA2:c.83A>T | α2 | Causative | α-chain variant | NG_000006.1 | 33858 |
506 | CD 31 AGG>AGC [Arg>Ser] | Hb Prato | HBA2:c.96G>C | α2 | Causative | α-chain variant | NG_000006.1 | 33988 |
3362 | CD 34 CTG>CCG [Leu>Pro] | Hb Bass Hill | HBA2:c.104T>C | α2 | Causative | α-chain variant | NG_000006.1 | 33996 |
511 | CD 35 TCC>TAC [Ser>Tyr] | Hb Shinagawa | HBA2:c.107C>A | α2 | Causative | α-chain variant | NG_000006.1 | 33999 |
2999 | CD 35 TCC>TTC [Ser>Phe] | Hb Colorado | HBA2:c.107C>T | α2 | Causative | α-chain variant | NG_000006.1 | 33999 |
514 | CD 37 CCC>CTC [Pro>Leu] | Hb Manawatu | HBA2:c.113C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34005 |
516 | CD 37 +GAA [+Glu] | Hb Catonsville | HBA1:c.114_115insGAA | HBA2:c.114_115insGAA | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34006, 37810 |
519 | CD 40 AAG>GAG [Lys>Glu] | Hb Kariya | HBA1:c.121A>G | HBA2:c.121A>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34013, 37817 |
527 | CD 43 TTC>GTC [Phe>Val] | Hb Torino | HBA1:c.130T>G | HBA2:c.130T>G | α1 or α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34022, 37826 |
2376 | CD 46 TTC>TCC [Phe>Ser] | Hb Lake Tapawingo | HBA2:c.140T>C | α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34032 |
541 | CD 47 GAC>CAC [Asp>His] (Hb L-Ferrara, Hb Michigan-I, Hb Michigan-II, Hb Sealy, Hb Sinai) | Hb Hasharon | HBA2:c.142G>C | α2 | Causative | α-chain variant | NG_000006.1 | 34034 |
544 | CD 47 GAC>GGC [Asp>Gly] (Hb Kokura , Hb L-Gaslini , Hb Mugino , Hb Tagawa-II , Hb Umi , Hb Yukuhashi-II) | Hb Beilinson | HBA1:c.143A>G | HBA2:c.143A>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34035, 37839 |
545 | CD 47 GAC>GCC [Asp>Ala] | Hb Cordele | HBA1:c.143A>C | HBA2:c.143A>C | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34035, 37839 |
2535 | CD 48-54 -18 bp | Hb Fenton | HBA2:c.146_163delTGAGCCACGGCTCTGCCC | α2 | Causative | α-chain variant | NG_000006.1 | 34038 |
551 | CD 50 CAC>CGC [His>Arg] | Hb Aichi | HBA1:c.152A>G | HBA2:c.152A>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34044, 37848 |
575 | CD 59 GGC>GTC [Gly>Val] | Hb Tottori | HBA1:c.179G>T | HBA2:c.179G>T | α1 or α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34071, 37875 |
580 | CD 61 AAG>GAG [Lys>Glu] | Hb Miyagi | HBA1:c.184A>G | HBA2:c.184A>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34076, 37880 |
583 | CD 62 GTG>ATG [Val>Met] | Hb Evans | HBA2:c.187G>A | α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34079 |
591 | CD 65 GCG>GTG [Ala>Val] | Hb Bois Guillaume | HBA1:c.197C>T | HBA2:c.197C>T | α1 or α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34089, 37893 |
611 | CD 75 (-GAC) | Hb Watts | HBA2:c.226_228del | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34118 |
630 | CD 80 CTG>CGG [Leu>Arg] | Hb Ann Arbor | HBA2:c.242T>G | α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34134 |
3800 | CD 80 CTG>CCG [Leu>Pro] | Hb Robbinsdale | HBA2:c.242T>C | α2 | Causative | α-chain variant | NG_000006.1 | 34134 |
635 | CD 83 CTG>CCG [Leu>Pro] | Hb Les Andelys | HBA2:c.251T>C | α2 | Causative | α-chain variant | NG_000006.1 | 34143 |
2372 | CD 86 CTG>GTG [Leu>Val] | Hb Ridgewood | HBA2:c.259C>G | α2 | Causative | α-chain variant | NG_000006.1 | 34151 |
643 | CD 86 CTG>CGG [Leu>Arg] | Hb Moabit | HBA1:c.260T>G | HBA2:c.260T>G | α1 or α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34152, 37956 |
646 | CD 87 CAC>AAC [His>Asn] | Hb Auckland | HBA1:c.262C>A | HBA2:c.262C>A | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34154, 37958 |
648 | CD 87 CAC>CGC [His>Arg] | Hb Iwata | HBA1:c.263A>G | HBA2:c.263A>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34155, 37959 |
2308 | CD 87 CAC>CAG [His>Gln] | Hb Lansing | HBA2:c.264C>G | α2 | Causative | α-chain variant | NG_000006.1 | 34156 |
2549 | CD 87 CAC>CAA [His>Glu] | Hb Lansing (A) | HBA2:c.264C>A | α2 | Causative | α-chain variant | NG_000006.1 | 34156 |
2311 | CD 91 CTT>TTT [Leu>Phe] | Hb Treviso | HBA2: c.274C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34166 |
2470 | CD 91 CTT>ATT [Leu>Ile] | Hb Zara | HBA2:c.274C>A | α2 | Causative | α-chain variant | NG_000006.1 | 34166 |
666 | CD 91 CTT>CCT [Leu>Pro] | Hb Port Phillip | HBA2:c.275T>C | α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34167 |
669 | CD 92 CGG>CTG [Arg>Leu] | Hb Chesapeake | HBA2:c.278G>T | α2 | Causative | α-chain variant | NG_000006.1 | 34170 |
673 | CD 94 GAC>TAC [Asp>Tyr] | Hb Setif | HBA2:c.283G>T | α2 | Causative | α-chain variant | NG_000006.1 | 34175 |
675 | CD 94 GAC>CAC [Asp>His] | Hb Sunshine Seth | HBA2:c.283G>C | α2 | Causative | α-chain variant | NG_000006.1 | 34175 |
679 | CD 94 GAC>GAG [Asp>Glu] | Hb Roanne | HBA1:c.285C>G | HBA2:c.285C>G | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34177, 37981 |
683 | CD 95 CCG>CTG [Pro>Leu] | Hb G-Georgia | HBA2:c.287C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34179 |
686 | CD 96 GTC>GAC [Val>Asp] | Hb El Escorial | HBA2:c.290T>A | α2 | Causative | α-chain variant | NG_000006.1 | 34182 |
2220 | CD 101 CTA>CCA [Leu>Pro] | Hb Bishopstown | HBA2:c.305T>C | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34339 |
692 | CD 102 AGC>CGC [Ser>Arg] | Hb Manitoba I | HBA2:c.307A>C | α2 | Causative | α-chain variant | NG_000006.1 | 34341 |
694 | CD 102 AGC>AGA [Ser>Arg] | Hb Manitoba III | HBA2:c.309C>A | α2 | Causative | α-chain variant | NG_000006.1 | 34343 |
696 | CD 103 CAC>TAC [His>Tyr] | Hb Lombard | HBA2:c.310C>T | α2 | Causative | α-chain variant | NG_000006.1 | 34344 |
698 | CD 103 CAC>CGC [His>Arg] | Hb Contaldo | HBA1:c.311A>G | HBA2:c.311A>G | α1 or α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34345, 38156 |
3056 | CD 104 TGC>AGC [Cys>Ser] | Hb Oegstgeest | HBA2:c.313T>A | α2 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 34347 |
3583 | CD 106 CTG>CGG [Leu>Arg] | Hb Beckett | HBA2:c.320T>G | α2 | Causative | α-chain variant | NG_000006.1 | 34354 |
398 | CD 109 (-C) | Hb Sciacca | HBA1:c.328delC | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34362 |
704 | CD 110 GCC>ACC [Ala>Thr] | Hb Tonosho | HBA1:c.331G>A | HBA2:c.331G>A | α1 or α2 | Causative | α-chain variant | NG_000006.1 | 34365, 38176 |
3271 | CD 119 CCT>GCT [Pro>Ala] (Hb Lakeview Terrace) | Hb Arcadia | HBA2:c.358C>G | α2 | Causative | α-chain variant | NG_000006.1 | 34392 |
734 | CD 124 TCC>CCC [Ser>Pro] | Hb Policoro | HBA2:c.373T>C | α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34407 |
412 | CD 129 CTG>CCG [Leu>Pro] | Hb Utrecht | HBA2:c.389T>C | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34423 |
766 | CD 136 CTG>CGG [Leu>Arg] | Hb Toyama | HBA1:c.410T>G | HBA2:c.410T>G | α1 or α2 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 34444, 38255 |
418 | CD 142 (TAA>CAA) >172aa | Hb Constant Spring | HBA2:c.427T>C | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34461 |
419 | CD 142 (TAA>AAA) >172aa | Hb Icaria | HBA2:c.427T>A | α2 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 34461 |
785 | CD 142 TAA>CAA>CAT | Hb Zurich-Altstetten | HBA2:c.[427T>C;429A>T] | α2 | Causative | α-chain variant | NG_000006.1 | 34461 |
3805 | Poly A (AATAAA>AATAAG);CD 94 (+21 bp duplication) | N/A | NG_000006.1:g.[34557A>G;37979_379996dup] | α2 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 34557 |
435 | CD 2 CTG>CGG [Leu>Arg] | Hb Chongqing | HBA1:c.8T>G | α1 | Causative | α-chain variant | NG_000006.1 | 37587 |
468 | CD 16 AAG>ATG [Lys>Met] | Hb Harbin | HBA1:c.50A>T | α1 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 37629 |
3000 | CD 18 GGC>AGC [ Gly>Ser] | Hb King Ecgbert | HBA1:c.55G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37634 |
2986 | CD 32 ATG>ACG [Met>Thr] | Hb Bridlington | HBA1:c.98T>C | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 37794 |
509 | CD 34 CTG>CGG [Leu>Arg] (Hb Ogi) | Hb Queens | HBA1:c.104T>G | α1 | Causative | α-chain variant | NG_000006.1 | 37800 |
371 | CD 39 (-ACC) [-Thr] | Hb Taybe | HBA1:c.118_120del | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 37814 |
536 | CD 45 CAC>CGC [His>Arg] | Hb Fort de France | HBA1:c.137A>G | α1 | Causative | α-chain variant | NG_000006.1 | 37833 |
542 | CD 47 GAC>AAC [Asp>Asn] | Hb Arya | HBA1:c.142G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37838 |
2500 | CD 47 GAC>CAC [Asp>His] (Hb L-Ferrara, Hb Michigan-I, Hb Michigan-II, Hb Sealy, Hb Sinai) | Hb Hasharon | HBA1:c.142G>C | α1 | Causative | α-chain variant | NG_000006.1 | 37838 |
553 | CD 51 GGC>AGC [Gly>Ser] | Hb Riccarton | HBA1:c.154G>A | α1 | Causative | α-chain variant | NG_000006.1 | 37850 |
556 | CD 52-59 (-24 bp) | Hb J-Biskra | HBA1:c.157_180del | α1 | Causative | α-chain variant | NG_000006.1 | 37853 |
3560 | CD 52 TCT>TGT [Ser>Cys] | Hb Dongguan | HBA1:c.158C>G | α1 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 37854 |
3962 | CD 57 GGC>TGC [Gly>Cys] | Hb Kirikiriroa | HBA1:c.172G>T | α1 | Causative | α-chain variant | NG_000006.1 | 37868 |
3175 | CD 58 CAC>CTC [His>Leu] | Hb Kirklareli | HBA1:c.176A>T | α1 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 37872 |
3280 | CD 59 GGC>CGC [Gly>Arg] | Hb Zurich-Albisrieden | HBA1:c.178G>C | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 37874 |
585 | CD 63 GCC>GAC [Ala>Asp] (Hb J-Pontoise) | Hb Pontoise | NM_000558.5(HBA1):c.191C>A | α1 | Causative | α-chain variant | NG_000006.1 | 37887 |
383 | CD 64-74 (-33 bp) | N/A | HBA1:c.193_225del33 | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 37889 |
597 | CD 68 +GCGCTGACCAAC [+Ala-Leu-Thr-Asn] | Hb Esch | HBA1:c.207_208insGCGCTGACCAAC | α1 | Causative | α-chain variant | NG_000006.1 | 37904 |
609 | CD 74 GAC>GGC [Asp>Gly] | Hb Chapel Hill | HBA1:c.224A>G | α1 | Causative | α-chain variant, Haemolytic anaemia | NG_000006.1 | 37920 |
637 | CD 84 AGC>AGA [Ser>Arg] | Hb Etobicoke | HBA1:c.255C>A | α1 | Causative | α-chain variant | NG_000006.1 | 37949 |
4098 | CD 86 CTG>CCG [Leu>Pro] | Hb Thessaloniki | HBA1:c.260T>C | α1 | Causative | α-chain variant | NG_000006.1 | 37956 |
649 | CD 87 CAC>CCC [His>Pro] | Hb Grifton | HBA1:c.263A>C | α1 | Causative | α-chain variant | NG_000006.1 | 37959 |
3852 | CD 93 GTG>ATG [Val>Met] | Hb Qingcheng | HBA1:c.280G>A | α1 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 37976 |
2539 | IVS II-3 (+21bp) | Hb SKMC | HBA1:c.283_300+3dup | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 37979 |
678 | CD 94 GAC>GGC [Asp>Gly] | Hb Çapa | HBA1:c.284A>G | α1 | Causative | α-chain variant | NG_000006.1 | 37980 |
684 | CD 95 CCG>CGG [Pro>Arg] | Hb St. Luke's | HBA1:c.287C>G | α1 | Causative | α-chain variant | NG_000006.1 | 37983 |
685 | CD 95 CCG>CAG [Pro>Gln] | Hb Wichita | HBA1:c.287C>A | α1 | Causative | α-chain variant | NG_000006.1 | 37983 |
4093 | CD 95 (-C) | Hb Campania | HBA1:c.287delC | α1 | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 37983 |
691 | CD 99 AAG>AAT [Lys>Asn] (Hb Harlow) | Hb Beziers | HBA1:c.300G>T | α1 | Causative | α-chain variant | NG_000006.1 | 37996 |
693 | CD 102 AGC>AGA [Ser>Arg] | Hb Manitoba II | HBA1:c.309C>A | α1 | Causative | α-chain variant | NG_000006.1 | 38154 |
2532 | CD 103 CAC>GAC [His>Asp] | Hb Illinois | HBA1:c.310C>G | α1 | Causative | α-chain variant | NG_000006.1 | 38155 |
2340 | CD 104 TGC>TGG [Cys>Trp] | Hb Donnington | HBA1:c.315C>G | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 38160 |
708 | CD 112 CAC>GAC [His>Asp] | Hb Hopkins-II | NM_000558.5(HBA1):c.337C>G | α1 | Causative | α-chain variant | NG_000006.1 | 38182 |
720 | CD 116 GAG>AAG [Glu>Lys] (Hb Buginese-X, Hb Oliviere) | Hb O-Indonesia | HBA1:c.349G>A | α1 | Causative | α-chain variant | NG_000006.1 | 38194 |
723 | CD 118-119 +9 bp [+Glu-Phe-Thr] (Hb Dakar) | Hb Grady | HBA1:c.349_357dup | α1 | Causative | α-chain variant | NG_000006.1 | 38194 |
406 | CD 119 CCT>TCT [Pro>Ser] (Hb Bemalda P, Hb Bernalda) | Hb Groene Hart | HBA1:c.358C>T | α1 | Causative | α-thalassaemia, α-chain variant, Haemolytic anaemia | NG_000006.1 | 38203 |
729 | CD 122 CAC>TAC [His>Tyr] | Hb Yanase | HBA1:c.367C>T | α1 | Causative | α-chain variant | NG_000006.1 | 38212 |
779 | CD 141 CGT>GGT [Arg>Gly] | Hb J-Camagüey | NM_000558.3(HBA1):c.424C>G | α1 | Causative | α-chain variant | NG_000006.1 | 38269 |
782 | CD 141 CGT>CTT [Arg>Leu] | Hb Legnano | HBA1:c.425G>T | α1 | Causative | α-chain variant | NG_000006.1 | 38270 |
2427 | CD 41 TTC>CTC [Phe>Leu] | Hb F-Avellino | HBG2:c.124T>C | Gγ | Causative | γ-chain variant, Hb F levels | NG_000007.3 | 43133 |
1449 | CD 101 GAG>AAG | Hb F-La Grange | HBG2:c.304G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 43313 |
3891 | CD 119 GGC>CGC [Gly>Arg] | Hb F-Pill Hill | HBG2:c.358G>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 44253 |
1458 | CD 130 TGG>GGG | Hb F-Poole | HBG2:c.391T>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 44286 |
3950 | CD 140 GCC>GAC [Ala>Asp] | Hb F-Wyandotte | HBG2:c.422C>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 44317 |
1468 | CD 25 GGA>CGA | Hb F-Xinjiang | HBG1:c.76G>C | Aγ | Causative | γ-chain variant | NG_000007.3 | 47887 |
3366 | CD 3 CTG>CCG [Leu>Pro] | Hb A2-Sile | HBD:c.11T>C | δ | Causative | δ-chain variant | NG_000007.3 | 63193 |
1331 | CD 4 ACT>ATT [Thr>Ile] (HbA2-Mitsero) | N/A | HBD:c.14C>T | δ | Causative | δ-thalassaemia, δ-chain variant | NG_000007.3 | 63196 |
2292 | CD 19 AAC>AAA [Asn>Lys] | Hb Famagusta | HBD:c.60C>A | δ | Causative | δ-thalassaemia, δ-chain variant | NG_000007.3 | 63242 |
3387 | CD 36 CCT>CGT [Pro>Arg] | Hb A2-Sanremo | HBD:c.110C>G | δ | Causative | δ-chain variant | NG_000007.3 | 63420 |
3383 | CD 91 CTG>CCG [Leu>Pro] | Hb A2-Courbevoie | HBD:c.275T>C | δ | Causative | δ-chain variant | NG_000007.3 | 63585 |
3546 | CD 130 TAT>-AT | Hb A2-Gaslini 1 | HBD:c.391delT | δ | Causative | δ-chain variant | NG_000007.3 | 64599 |
2560 | CD 142 GCT>GTT [Ala>Val] | Hb A2-Episkopi | HBD:c.428C>T | δ | Causative | δ-thalassaemia, δ-chain variant | NG_000007.3 | 64636 |
805 | CD 5 CCT>TCT | Hb Tyne | HBB:c.16C>T | β | Causative | β-chain variant | NG_000007.3 | 70610 |
806 | CD 5 CCT>GCT [Pro>Ala] (Hb Hinchingbrooke) | Hb Gorwihl | HBB:c.16C>G | β | Causative | β-chain variant | NG_000007.3 | 70610 |
807 | CD 5 CCT>CGT | Hb Warwickshire | HBB:c.17C>G | β | Causative | β-chain variant | NG_000007.3 | 70611 |
809 | CD 6 GAG>AAG [Glu>Lys] and CD 98 GTG>ATG [Val>Met] | Hb Kingsbury | HBB:c.[19G>A ;295G>A] | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70613 |
817 | CD 6 GAG>GTG; CD 73 GAT>AAT | Hb C-Harlem | HBB:c.[20A>T;220G>A] | β | Causative | β-chain variant | NG_000007.3 | 70614 |
819 | CD 6 GAG>GTG; CD 142 GCC>GTC | Hb S-Travis | HBB:c.[20A>T;428C>T] | β | Causative | β-chain variant | NG_000007.3 | 70614 |
2440 | CD 6 GAG>GTG [Glu>Val] AND CD 65 AAG>GAG [Lys>Glu] | Hb S-Sao Paulo | HBB:c.[20A>T ;196A>G] | β | Causative | β-chain variant | NG_000007.3 | 70614, 70920 |
828 | CD 7 (-GAG) [-Glu] (Hb Xinyi) | Hb Leiden | HBB:c.22_24delGAG | β | Causative | β-chain variant | NG_000007.3 | 70616 |
830 | CD 7 GAG>GGG | Hb G-San José | HBB:c.23A>G | β | Causative | β-chain variant | NG_000007.3 | 70617 |
840 | CD 10 GCC>ACC [Ala>Thr] | Hb Belleville | HBB:c.31G>A | β | Causative | β-chain variant | NG_000007.3 | 70625 |
844 | CD 11 GTT>TTT | Hb Washtenaw | HBB:c.34G>T | β | Causative | β-chain variant | NG_000007.3 | 70628 |
3297 | CD 11-13 (-9bp): (-GTTACTGCC) | Hb JC-Paz | HBB:c.34_42delGTTACTGCC | β | Causative | β-chain variant | NG_000007.3 | 70628 |
847 | CD 11 GTT>GAT | Hb Windsor | HBB:c.35T>A | β | Causative | β-chain variant | NG_000007.3 | 70629 |
2492 | CD 12 ACT>CCT [Thr>Pro] (Hb Feilding) | Hb Ashburton | HBB:c.37A>C | β | Causative | β-chain variant | NG_000007.3 | 70631 |
849 | CD 14 CTG>CCG | Hb Saki | HBB:c.44T>C | β | Causative | β-chain variant | NG_000007.3 | 70638 |
850 | CD 14 CTG>CGG | Hb Sogn | HBB:c.44T>G | β | Causative | β-chain variant | NG_000007.3 | 70638 |
851 | CD 15 TGG>GGG | Hb Randwick | HBB:c.46T>G | β | Causative | β-chain variant | NG_000007.3 | 70640 |
852 | CD 15 TGG>AGG or CGG | Hb Belfast | HBB:c.46T>A | HBB:c.46T>C | β | Causative | β-chain variant | NG_000007.3 | 70640 |
857 | CD 17 AAG>CAG (Hb Nicosia) | Hb Nikosia | HBB:c.52A>C | β | Causative | β-chain variant | NG_000007.3 | 70646 |
855 | CD 17-19 (-GGTGAA) | Hb Lyon | HBB:c.54_59del | β | Causative | β-chain variant | NG_000007.3 | 70648 |
860 | CD 18 GTG>GGG | Hb Sinai-Baltimore | HBB:c.56T>G | β | Causative | β-chain variant | NG_000007.3 | 70650 |
864 | CD 20 GTG>ATG | Hb Olympia | HBB:c.61G>A | β | Causative | β-chain variant | NG_000007.3 | 70655 |
871 | CD 21 GAT>GTT | Hb Rocky Mountain | HBB:c.65A>T | β | Causative | β-chain variant | NG_000007.3 | 70659 |
872 | CD 22-26 (-12bp) | Hb Olinda | HBB:c.69_80delAGTTGGTGGTGA | β | Causative | β-chain variant | NG_000007.3 | 70663 |
880 | CD 23 GTT>TTT | Hb Palmerston North | HBB:c.70G>T | β | Causative | β-chain variant | NG_000007.3 | 70664 |
4106 | CD 23 GTT>TTT; CD 26 GAG>AAG | Hb E-Palmerston North | HBB:c.[70G>T;79G>A] | β | Causative | β-thalassaemia, β-chain variant | NG_000007.3 | 70664, 70673 |
878 | CD 23/24 (GTTGGT>GGT) | Hb Freiburg | HBB:c.71_73del | β | Causative | β-chain variant | NG_000007.3 | 70665 |
882 | CD 23 GTT>GGT | Hb Miyashiro | HBB:c.71T>G | β | Causative | β-chain variant | NG_000007.3 | 70665 |
885 | CD 24 GGT>CGT | Hb Riverdale-Bronx | HBB:c.73G>C | β | Causative | β-chain variant | NG_000007.3 | 70667 |
886 | CD 24 GGT>GAT [Gly>Asp] | Hb Moscva | HBB:c.74G>A | β | Causative | β-chain variant | NG_000007.3 | 70668 |
887 | CD 24 GGT>GTT | Hb Savannah | HBB:c.74G>T | β | Causative | β-chain variant | NG_000007.3 | 70668 |
889 | CD 25 GGT>GAT | Hb J-Auckland | HBB:c.77G>A | β | Causative | β-chain variant | NG_000007.3 | 70671 |
3306 | CD 25/26 -GTG [-Gly] (Hb Higashitochigi, Hb HT) | Hb M Dothan | HBB:c.77_79delGTG | β | Causative | β-chain variant | NG_000007.3 | 70671 |
88 | CD 26 GAG>AAG [Glu>Lys] | HbE | HBB:c.79G>A | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70673 |
892 | CD 26 GAG>AAG; CD 121 GAA>CAA | Hb T-Cambodia | HBB:c.[79G>A;364G>C] | β | Causative | β-chain variant | NG_000007.3 | 70673 |
893 | CD 26 GAG>GGG | Hb Aubenas | HBB:c.80A>G | β | Causative | β-chain variant | NG_000007.3 | 70674 |
895 | CD 26 GAG>GTG [Glu>Val] | Hb Henri Mondor | HBB:c.80A>T | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70674 |
898 | CD 27 GCC>GAC | Hb Volga | HBB:c.83C>A | β | Causative | β-chain variant | NG_000007.3 | 70677 |
900 | CD 28 CTG>ATG [Leu>Met] | Hb Chile | HBB:c.85C>A | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70679 |
94 | CD 28 CTG>CGG [Leu >Arg] | Hb Chesterfield | HBB:c.86T>G | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70680 |
901 | CD 28 CTG>CCG [Leu>Pro] | Hb Genova | HBB:c.86T>C | β | Causative | β-chain variant | NG_000007.3 | 70680 |
902 | CD 28 CTG>CAG [Leu>Gln] | Hb Saint Louis | HBB:c.86T>A | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70680 |
904 | CD 29 GGC>AGC [Gly>Ser] | Hb Tizi-Ouzou | HBB:c.88G>A | β | Causative | β-chain variant | NG_000007.3 | 70682 |
905 | CD 29 GGC>GAC | Hb Lufkin | HBB:c.89G>A | β | Causative | β-chain variant | NG_000007.3 | 70683 |
100 | CD 30 (G>C) or IVS I (-1) AGG>ACG (Arg>Thr) (Hb Kairouan) | Hb Monroe | HBB:c.92G>C | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70686 |
125 | CD 30/31 +CGG [+Arg] | N/A | HBB:c.93_94insCGG | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70817 |
907 | CD 30 AGG>AGT [Arg>Ser] | Hb Tacoma | HBB:c.93G>T | β | Causative | β-chain variant | NG_000007.3 | 70817 |
910 | CD 31 CTG>CCG | Hb Yokohama | HBB:c.95T>C | β | Causative | β-chain variant | NG_000007.3 | 70819 |
911 | CD 32 CTG>GTG | Hb Muscat | HBB:c.97C>G | β | Causative | β-chain variant | NG_000007.3 | 70821 |
127 | CD 32 CTG>CAG: CD 98 GTG>ATG | Hb Medicine Lake | HBB:c.[98T>A; 295G>A] | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70822 |
912 | CD 32 CTG>CCG | Hb Perth | HBB:c.98T>C | β | Causative | β-chain variant | NG_000007.3 | 70822 |
915 | CD 32 CTG>CGG [Leu>Arg] | Hb Castilla | HBB:c.98T>G | β | Causative | β-chain variant | NG_000007.3 | 70822 |
3364 | CD 33 GTG>TTG [Val>Leu] | Hb Venissieux | HBB:c.100G>T | β | Causative | β-chain variant | NG_000007.3 | 70824 |
131 | CD 33-35 (-TGGTCT) | Hb Dresden | HBB:c.101_106delTGGTCT | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70825 |
129 | CD 33/34 (GTGGTC>GTC) | Hb Korea | HBB:c.102_104del | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70826 |
920 | CD 34 GTC>TTC | Hb Pitie-Salpetriere | HBB:c.103G>T | β | Causative | β-chain variant | NG_000007.3 | 70827 |
921 | CD 34 GTC>GAC | Hb Santander | HBB:c.104T>A | β | Causative | β-chain variant | NG_000007.3 | 70828 |
3700 | CD 34 GTC>GCC [Val>Ala] | Hb San Francisco-KP | HBB:c.104T>C | β | Causative | β-thalassaemia, β-chain variant | NG_000007.3 | 70828 |
922 | CD 35 TAC>TTC [Tyr>Phe] | Hb Philly | HBB:c.107A>T | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70831 |
923 | CD 36 CCT>ACT | Hb Linköping | HBB:c.109C>A | β | Causative | β-chain variant | NG_000007.3 | 70833 |
932 | CD 38 ACC>CCC | Hb Hazebrouck | HBB:c.115A>C | β | Causative | β-chain variant | NG_000007.3 | 70839 |
936 | CD 39 CAG>GAG | Hb Vaasa | HBB:c.118C>G | β | Causative | β-chain variant | NG_000007.3 | 70842 |
937 | CD 39 CAG>CGG [Gln>Arg] | Hb Tianshui | HBB:c.119A>G | β | Causative | β-chain variant | NG_000007.3 | 70843 |
2962 | CD 39 CAG>CCG [Gln>Pro] | Hb Hyden | HBB:c.119A>C | β | Causative | β-chain variant | NG_000007.3 | 70843 |
2544 | CD 40 AGG>ACG [Arg>Thr] | Hb Alcorn County | HBB:c.122G>C | β | Causative | β-chain variant | NG_000007.3 | 70846 |
942 | CD 41 TTC>TGC | Hb Ilmenau | HBB:c.125T>G | β | Causative | β-chain variant | NG_000007.3 | 70849 |
943 | CD 41 TTC>TCC | Hb Denver | HBB:c.125T>C | β | Causative | β-chain variant | NG_000007.3 | 70849 |
944 | CD 41 TTC>TAC | Hb Mequon | HBB:c.125T>A | β | Causative | β-chain variant | NG_000007.3 | 70849 |
945 | CD 42 (-TTT) | Hb Bruxelles | HBB:c.127_129delTTT | β | Causative | β-chain variant | NG_000007.3 | 70851 |
947 | CD 42 TTT>CTT [Phe>Leu] | Hb Louisville | HBB:c.127T>C | β | Causative | β-chain variant | NG_000007.3 | 70851 |
948 | CD 42 TTT>GTT (Hb Warsaw) | Hb Sendagi | HBB:c.127T>G | β | Causative | β-chain variant | NG_000007.3 | 70851 |
949 | CD 42 TTT>TCT [Phe>Ser] | Hb Hammersmith | HBB:c.128T>C | β | Causative | β-chain variant | NG_000007.3 | 70852 |
946 | CD 43-46 (-9bp) | Hb Niteroi | HBB:c.131_139del | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70855 |
954 | CD 44 TCC>TGC | Hb Mississippi | HBB:c.134C>G | β | Causative | β-chain variant | NG_000007.3 | 70858 |
2531 | CD 45 TTT>GTT [Phe>Val] | Hb Duc Pho | HBB:c.136T>G | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70860 |
955 | CD 45 TTT>TCT | Hb Cheverly | HBB:c.137T>C | β | Causative | β-chain variant | NG_000007.3 | 70861 |
957 | CD 45 TTT>TGT | Hb Arta | HBB:c.137T>G | β | Causative | β-chain variant | NG_000007.3 | 70861 |
961 | CD 47 GAT>CAT [Asp>His] | Hb Maryland | HBB:c.142G>C | β | Causative | β-chain variant | NG_000007.3 | 70866 |
965 | CD 47 GAT>GTT | Hb Muravera | HBB:c.143A>T | β | Causative | β-chain variant | NG_000007.3 | 70867 |
966 | CD 48 CTG>CGG | Hb Okaloosa | HBB:c.146T>G | β | Causative | β-chain variant | NG_000007.3 | 70870 |
967 | CD 48 CTG>CCG | Hb Bab-Saadoun | HBB:c.146T>C | β | Causative | β-chain variant | NG_000007.3 | 70870 |
969 | CD 49 TCC>TTC | Hb Las Palmas | HBB:c.149C>T | β | Causative | β-chain variant | NG_000007.3 | 70873 |
974 | CD 51 CCT>CGT | Hb Willamette | HBB:c.155C>G | β | Causative | β-chain variant | NG_000007.3 | 70879 |
982 | CD 53 GCT>ACT | Hb Acharnes | HBB:c.160G>A | β | Causative | β-chain variant | NG_000007.3 | 70884 |
2964 | CD 53 GCT>GTT [Ala>Val] | Hb Midnapore | HBB:c.161C>T | β | Causative | β-chain variant | NG_000007.3 | 70885 |
983 | CD 54 GTT>GAT | Hb Jacksonville | HBB:c.164T>A | β | Causative | β-chain variant | NG_000007.3 | 70888 |
984 | CD 55 ATG>AAG | Hb Matera | HBB:c.167T>A | β | Causative | β-chain variant | NG_000007.3 | 70891 |
987 | CD 56 GGC>CGC; CD 86 GCC>CCC | Hb Poissy | HBB:c.[169G>C;259G>C] | β | Causative | β-chain variant | NG_000007.3 | 70893 |
989 | CD 56-60 (-12bp) | Hb Tochigi | HBB:c.170_181del | β | Causative | β-chain variant | NG_000007.3 | 70894 |
993 | CD 57 AAC>AAA or AAG | Hb G-Ferrara | HBB:c.174C>A | HBB:c.174C>G | β | Causative | β-chain variant | NG_000007.3 | 70898 |
170 | CD 60 GTG>GAG [Val>Glu] | Hb Cagliari | HBB:c.182T>A | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70906 |
1000 | CD 60 GTG>GCG [Leu>Ala] | Hb Collingwood | HBB:c.182T>C | β | Causative | β-chain variant | NG_000007.3 | 70906 |
3298 | CD 60-61 (-6bp): (-TGAAGG) | Hb Tavapy | HBB:c.182_187delTGAAGG | β | Causative | β-chain variant | NG_000007.3 | 70906 |
1006 | CD 62 GCT>CCT | Hb Duarte | HBB:c.187G>C | β | Causative | β-chain variant | NG_000007.3 | 70911 |
1008 | CD 63 CAT>AAT [His>Asn] | Hb Haná | HBB:c.190C>A | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70914 |
1009 | CD 63 CAT>TAT (Hb Hörlein-Weber, Hb Leipzig, Hb M-Arhus, Hb M-Chicago, Hb M-Emory, Hb M-Erlangen, Hb M-Hamburg, Hb M-Hida, Hb M-Kurume, Hb M-Radom, Hb Novi Sad) | Hb M-Saskatoon | HBB:c.190C>T | β | Causative | β-chain variant | NG_000007.3 | 70914 |
1010 | CD 63 CAT>CCT | Hb Bicêtre | HBB:c.191A>C | β | Causative | β-chain variant | NG_000007.3 | 70915 |
1011 | CD 63 CAT>CGT [His>Arg] (Hb Zurich) | Hb Zürich | HBB:c.191A>G | β | Causative | β-chain variant | NG_000007.3 | 70915 |
1012 | CD 64 GGC>GCC | Hb Aubagne | HBB:c.194G>C | β | Causative | β-chain variant | NG_000007.3 | 70918 |
1013 | CD 64 GGC>GAC | Hb J-Calabria | HBB:c.194G>A | β | Causative | β-chain variant | NG_000007.3 | 70918 |
1018 | CD 66 AAA>GAA | Hb I-Toulouse | HBB:c.199A>G | β | Causative | β-chain variant | NG_000007.3 | 70923 |
1019 | CD 66 AAA>ACA | Hb Chico | HBB:c.200A>C | β | Causative | β-chain variant | NG_000007.3 | 70924 |
1021 | CD 67 GTG>ATG [Val>Met] (Hb Bristol-Alesha, Hb Bristol) | Hb Alesha | HBB:c.202G>A | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70926 |
1023 | CD 67 GTG>GGG [Val>Gly] | Hb Manukau | HBB:c.203T>G | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70927 |
1025 | CD 67 GTG>GCG | Hb Sydney | HBB:c.203T>C | β | Causative | β-chain variant | NG_000007.3 | 70927 |
1029 | CD 69 (+GCTCGG) | Hb Nishinomiya | HBB:c.204_209dupGCTCGG | β | Causative | β-chain variant | NG_000007.3 | 70928 |
1027 | CD 68 CTC>CAC | Hb Brisbane | HBB:c.206T>A | β | Causative | β-chain variant | NG_000007.3 | 70930 |
1028 | CD 68 CTC>CCC [Leu>Pro] | Hb Mizuho | HBB:c.206T>C | β | Causative | β-chain variant | NG_000007.3 | 70930 |
1033 | CD 70 GCC>CCC [Ala>Pro] | Hb Abington | HBB:c.211G>C | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70935 |
1034 | CD 70 GCC>GAC | Hb Seattle | HBB:c.212C>A | β | Causative | β-chain variant | NG_000007.3 | 70936 |
1035 | CD 70 GCC>GGC [Ala>Gly] | Hb Hershey | HBB:c.212C>G | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70936 |
1037 | CD 71 TTT>TCT | Hb Christchurch | HBB:c.215T>C | β | Causative | β-chain variant | NG_000007.3 | 70939 |
2969 | CD 71 TTT>TAT [Phe>Tyr] | Hb Saint-Clair | HBB:c.215T>A | β | Causative | β-chain variant | NG_000007.3 | 70939 |
1043 | CD 73-75 (-GATGGCCTG; + Ala-Arg-Cys-Gln) | Hb Montreal | HBB:c.220_228delinsGCTCGGTGCCAG | β | Causative | β-chain variant | NG_000007.3 | 70944 |
1046 | CD 74 GGC>CGC [Gly>Arg] | Hb Aalborg | HBB:c.223G>C | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70947 |
1044 | CD 74-76 (-GCCTGG) | Hb Saint-Antoine | HBB:c.224_229delGCCTGG | β | Causative | β-chain variant | NG_000007.3 | 70948 |
1047 | CD 74 GGC>GTC | Hb Bushwick | HBB:c.224G>T | β | Causative | β-chain variant | NG_000007.3 | 70948 |
1048 | CD 74 GGC>GAC | Hb Shepherds Bush | HBB:c.224G>A | β | Causative | β-chain variant | NG_000007.3 | 70948 |
1050 | CD 75 CTG>CCG; CD 141 (-CTG) | Hb Atlanta-Coventry | HBB:c.[227T>C;424_426delCTG] | β | Causative | β-chain variant | NG_000007.3 | 70951 |
1051 | CD 75 CTG>CCG | Hb Atlanta | HBB:c.227T>C | β | Causative | β-chain variant | NG_000007.3 | 70951 |
1052 | CD 75 CTG>CGG | Hb Pasadena | HBB:c.227T>G | β | Causative | β-chain variant | NG_000007.3 | 70951 |
1057 | CD 77 CAC>TAC | Hb Fukuyama | HBB:c.232C>T | β | Causative | β-chain variant | NG_000007.3 | 70956 |
2533 | CD 77 CAC>CCC [His>Pro] | Hb Brooklyn | HBB:c.233A>C | β | Causative | β-chain variant | NG_000007.3 | 70957 |
1069 | CD 81 CTC>CGC | Hb Baylor | HBB:c.245T>G | β | Causative | β-chain variant | NG_000007.3 | 70969 |
1070 | CD 81 CTC>CAC | Hb La Roche-sur-Yon | HBB:c.245T>A | β | Causative | β-chain variant | NG_000007.3 | 70969 |
1078 | CD 83 GGC>TGC [Gly>Cys] | Hb Ta-Li | HBB:c.250G>T | β | Causative | β-chain variant | NG_000007.3 | 70974 |
1080 | CD 84 ACC>GCC | Hb Saale | HBB:c.253A>G | β | Causative | β-chain variant | NG_000007.3 | 70977 |
3323 | CD 85 TTT>CTT [Phe>Leu] | Hb San Martin | HBB:c.256T>C | β | Causative | β-chain variant | NG_000007.3 | 70980 |
1083 | CD 85 TTT>TCT (Hb Bryn Mawr) | Hb Buenos Aires | HBB:c.257T>C | β | Causative | β-chain variant | NG_000007.3 | 70981 |
1087 | CD 87 (-ACA) | Hb Tours | HBB:c.262_264delACA | β | Causative | β-chain variant | NG_000007.3 | 70986 |
1091 | CD 88 CTG>GTG [Leu>Val] | Hb Oofuna | HBB:c.265C>G | β | Causative | β-chain variant | NG_000007.3 | 70989 |
1092 | CD 88 CTG>CGG | Hb Borås | HBB:c.266T>G | β | Causative | β-chain variant | NG_000007.3 | 70990 |
1093 | CD 88 CTG>CCG | Hb Santa Ana | HBB:c.266T>C | β | Causative | β-chain variant | NG_000007.3 | 70990 |
1097 | CD 90 GAG>AAG | Hb Agenogi | HBB:c.271G>A | β | Causative | β-chain variant | NG_000007.3 | 70995 |
1118 | CD 94/95 +15 bp [+Glu-Leu-His-Cys-Asp] | Hb Fairfax | HBB:c.271_285dupGAGCTGCACTGTGAC | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 70995 |
1098 | CD 90 GAG>GGG | Hb Roseau-Pointe a Pitre | HBB:c.272A>G | β | Causative | β-chain variant | NG_000007.3 | 70996 |
1124 | CD 95/96 (+15 bp) | Hb Koriyama | HBB:c.274_288dup | β | Causative | β-chain variant | NG_000007.3 | 70998 |
1101 | CD 91 CTG>CCG | Hb Sabine | HBB:c.275T>C | β | Causative | β-chain variant | NG_000007.3 | 70999 |
1102 | CD 91 CTG>CGG | Hb Caribbean | HBB:c.275T>G | β | Causative | β-chain variant | NG_000007.3 | 70999 |
1103 | CD 92 CAC>GAC | Hb J-Altgeld Gardens | HBB:c.277C>G | β | Causative | β-chain variant | NG_000007.3 | 71001 |
1104 | CD 92 CAC>TAC (Hb M-Akita, Hb M-Hyde Park) | Hb M-Milwaukee-2 | HBB:c.277C>T | β | Causative | β-chain variant | NG_000007.3 | 71001 |
1105 | CD 92 CAC>AAC | Hb Redondo | HBB:c.277C>A | β | Causative | β-chain variant | NG_000007.3 | 71001 |
1106 | CD 92 CAC>CCC | Hb Newcastle | HBB:c.278A>C | β | Causative | β-chain variant | NG_000007.3 | 71002 |
1107 | CD 92 CAC>CGC | Hb Mozhaisk | HBB:c.278A>G | β | Causative | β-chain variant | NG_000007.3 | 71002 |
1109 | CD 92 CAC>CAG [His>Gln] (Hb Istanbul) | Hb Saint Etienne | HBB:c.279C>G | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 71003 |
1100 | CD 93-97 (-15 bp) | Hb Gun Hill | Hb GH | HBB:c.280_294delTGTGACAAGCTGCAC | β | Causative | β-chain variant | NG_000007.3 | 71004 |
1110 | CD 93 TGT>CGT: CD 121 GAA>CAA | Hb Cleveland | HBB:c.[280T>C;364G>C] | β | Causative | β-chain variant | NG_000007.3 | 71004 |
1111 | CD 93 TGT>CGT | Hb Okazaki | HBB:c.280T>C | β | Causative | β-chain variant | NG_000007.3 | 71004 |
2441 | CD 93 TGT>TGG [Cys>Trp] | Hb Santa Giusta Sardegna | HBB:c.282T>G | β | Causative | β-chain variant | NG_000007.3 | 71006 |
1123 | CD 96 CTG>CCG | Hb Debrousse | HBB:c.290T>C | β | Causative | β-chain variant | NG_000007.3 | 71014 |
1125 | CD 97/98 (-ACG) | Hb Galicia | HBB:c.293_295delACG | β | Causative | β-chain variant | NG_000007.3 | 71017 |
1129 | CD 97 CAC>CCC | Hb Nagoya | HBB:c.293A>C | β | Causative | β-chain variant | NG_000007.3 | 71017 |
1131 | CD 98 GTG>ATG [Val>Met] (Hb San Francisco (Pacific), Hb Ube-1) | Hb Köln | HBB:c.295G>A | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 71019 |
1132 | CD 98 GTG>GGG | Hb Nottingham | HBB:c.296T>G | β | Causative | β-chain variant | NG_000007.3 | 71020 |
1133 | CD 98 GTG>GAG [Val>Glu] | Hb Mainz | HBB:c.296T>A | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 71020 |
1134 | CD 98 GTG>GCG | Hb Djelfa | HBB:c.296T>C | β | Causative | β-chain variant | NG_000007.3 | 71020 |
2412 | CD 100 CCT>TCT [Pro>Ser] | Hb Niort | HBB:c.301C>T | β | Causative | β-chain variant | NG_000007.3 | 71025 |
1145 | CD 101 GAG>CAG | Hb Rush | HBB:c.304G>C | β | Causative | β-chain variant | NG_000007.3 | 71028 |
1148 | CD 101 GAG>GCG | Hb Youngstown | Hb St Mary's | HBB:c.305A>C | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 71029 |
1152 | CD 102 AAC>AGC | Hb Beth Israel | HBB:c.308A>G | β | Causative | β-chain variant | NG_000007.3 | 71032 |
1153 | CD 102 AAC>ACC [Asn>Thr] (Hb Reissmann) | Hb Kansas | HBB:c.308A>C | β | Causative | β-chain variant | NG_000007.3 | 71032 |
1162 | CD 104 AGG>AGC [Arg>Ser] | Hb Camperdown | HBB:c.315G>C | β | Causative | β-chain variant | NG_000007.3 | 71039 |
209 | IVS II-535 - CD 108 (+23, -310, +28) | Hb Jambol | HBB:c.[316-300_327delinsCAGGTGCCATCTGTCACCCTTTTCTTTG;316-316_316-315insAATATATTTTTAATATACTTTTT] | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71590 |
2379 | CD 6 GAG>GTG [Glu>Val] AND CD 105 CTC>CCC [Leu>Pro] | Hb S-San Martin | HBB:c.[20A>T ;317T>C] | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 71891 |
2404 | CD 105 CTC>CCC [Leu>Pro] | Hb Bellevue IV | HBB:c.317T>C | β | Causative | β-chain variant | NG_000007.3 | 71891 |
1167 | CD 106 CTG>CAG | Hb Tübingen | HBB:c.320T>A | β | Causative | β-chain variant | NG_000007.3 | 71894 |
1168 | CD 107 GGC>CGC | Hb Burke | HBB:c.322G>C | β | Causative | β-chain variant | NG_000007.3 | 71896 |
1169 | CD 107 GGC>GAC | Hb Lulu Island | HBB:c.323G>A | β | Causative | β-chain variant | NG_000007.3 | 71897 |
1172 | CD 108 AAC>ATC | Hb Schlierbach | HBB:c.326A>T | β | Causative | β-chain variant | NG_000007.3 | 71900 |
234 | CD 110 CTG>CCG [Leu>Pro] | Hb Showa-Yakushiji | HBB:c.332T>C | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71906 |
1179 | CD 111 GTC>CTC, CD 119 GGC>GAC | Hb Fannin-Lubbock II | HBB:c.[334G>C;359G>A] | β | Causative | β-chain variant | NG_000007.3 | 71908 |
1180 | CD 111 GTC>TTC [Val>Phe] | Hb Peterborough | HBB:c.334G>T | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 71908 |
1181 | CD 111 GTC>GCC [Val>Ala] | Hb Stanmore | HBB:c.335T>C | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 71909 |
3001 | CD 111 GTC>GGC [Val>Gly] | Hb Belluno | HBB:c.335T>G | β | Causative | β-chain variant | NG_000007.3 | 71909 |
1182 | CD 112 TGT>CGT [Cys>Arg] | Hb Indianapolis | HBB:c.337T>C | β | Causative | β-chain variant | NG_000007.3 | 71911 |
1183 | CD 112 TGT>TTT | Hb Canterbury | HBB:c.338G>T | β | Causative | β-chain variant | NG_000007.3 | 71912 |
1185 | CD 112 TGT>TGG | Hb Toranomon | HBB:c.339T>G | β | Causative | β-chain variant | NG_000007.3 | 71913 |
1187 | CD 113 GTG>GAG [Val>Glu] (Hb Kaohsiung) | Hb New York | HBB:c.341T>A | β | Causative | β-chain variant | NG_000007.3 | 71915 |
237 | CD 114 CTG>CCG [Leu>Pro] (Hb Brescia) | Hb Durham-N.C. | HBB:c.344T>C | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71918 |
1192 | CD 115 GCC>CCC | Hb Madrid | HBB:c.346G>C | β | Causative | β-chain variant | NG_000007.3 | 71920 |
239 | CD 115 (GCC>GAC) Ala to Asp | Hb Hradec Kralove (HK) | HBB:c.347C>A | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71921 |
1193 | CD 115 GCC>GTC [Ala>Val] | Hb Roma | HBB:c.347C>T | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 71921 |
1197 | CD 116 CAT>CCT [His>Pro] | Hb Miami | HBB:c.350A>C | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 71924 |
1205 | CD 117 CAC>CCC | Hb Saitama | HBB:c.353A>C | β | Causative | β-chain variant | NG_000007.3 | 71927 |
1210 | CD 119 GGC>GAC [Gly>Asp] | Hb Fannin-Lubbock I | HBB:c.359G>A | β | Causative | β-chain variant | NG_000007.3 | 71933 |
1211 | CD 119 GGC>GTC | Hb Bougardirey-Mali | HBB:c.359G>T | β | Causative | β-chain variant | NG_000007.3 | 71933 |
1215 | CD 120 AAA>ATA | Hb Jianghua | HBB:c.362A>T | β | Causative | β-chain variant | NG_000007.3 | 71936 |
1223 | CD 122 TTC>TCC [Phe>Ser] | Hb Caruaru | HBB:c.368T>C | β | Causative | β-chain variant | NG_000007.3 | 71942 |
245 | CD 123 (-A) >156aa | Hb Makabe | HBB:c.370delA | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71944 |
1230 | CD 124 CCA>CGA [Pro>Arg] | Hb Khartoum | HBB:c.374C>G | β | Causative | β-chain variant | NG_000007.3 | 71948 |
249 | CD 125 (-A) >156aa | N/A | HBB:c.378delA | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71952 |
1234 | CD 126 GTG>GAG | Hb Hofu | HBB:c.380T>A | β | Causative | β-chain variant | NG_000007.3 | 71954 |
1235 | CD 126 GTG>GGG [Val>Gly] (Hb Neapolis) | Hb Dhonburi | HBB:c.380T>G | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71954 |
1236 | CD 127 CAG>AAG | Hb Brest | HBB:c.382C>A | β | Causative | β-chain variant | NG_000007.3 | 71956 |
1237 | CD 127 CAG>GAG | Hb Complutense | HBB:c.382C>G | β | Causative | β-chain variant | NG_000007.3 | 71956 |
253 | CD 127 (CAG>CCG) Gln to Pro | Hb Houston | HBB:c.383A>C | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71957 |
254 | CD 127 CAG>CGG [Gln>Arg] | Hb Dieppe | HBB:c.383A>G | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71957 |
256 | CD 127/128 -AGG [Glu-Ala>Pro] | Hb Gunma | HBB:c.383_385delAGG | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71957 |
257 | CD 128/129 (-4, +5, -11 bp) >153aa | N/A | HBB:c.[385_388delinsCCACA;397_407delAAAGTGGTGGC] | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71959 |
1241 | CD 128 GCT>CCT | Hb Mont Saint Aignan | HBB:c.385G>C | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71959 |
1242 | CD 128 GCT>GTT | Hb Sitia | HBB:c.386C>T | β | Causative | β-chain variant | NG_000007.3 | 71960 |
1243 | CD 128 GCT>GAT [Ala>Asp] | Hb J-Guantanamo | HBB:c.386C>A | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 71960 |
1244 | CD 129 GCC>CCC | Hb Crete | HBB:c.388G>C | β | Causative | β-chain variant | NG_000007.3 | 71962 |
1245 | CD 129 GCC>GTC [Ala>Val] | Hb La Desirade | HBB:c.389C>T | β | Causative | β-chain variant | NG_000007.3 | 71963 |
1248 | CD 130 TAT>GAT | Hb Wien | HBB:c.391T>G | β | Causative | β-chain variant | NG_000007.3 | 71965 |
1250 | CD 130 TAT>TCT | Hb Nevers | HBB:c.392A>C | β | Causative | β-chain variant | NG_000007.3 | 71966 |
1252 | CD 131 CAG>AAG | Hb Shelby | HBB:c.394C>A | β | Causative | β-chain variant | NG_000007.3 | 71968 |
1254 | CD 131 CAG>CCG | Hb Shanghai | HBB:c.395A>C | β | Causative | β-chain variant | NG_000007.3 | 71969 |
1258 | CD 132 AAA>ACA | Hb Cook | HBB:c.398A>C | β | Causative | β-chain variant | NG_000007.3 | 71972 |
1259 | CD 132 AAA>AAC, also AAA>AAT | Hb Yamagata | HBB:c.399A>C | HBB:c.399A>T | β | Causative | β-chain variant | NG_000007.3 | 71973 |
1260 | CD 133 GTG>CTG | Hb Extremadura | HBB:c.400G>C | β | Causative | β-chain variant | NG_000007.3 | 71974 |
1262 | CD 133 GTG>GCG | Hb Renert | HBB:c.401T>C | β | Causative | β-chain variant | NG_000007.3 | 71975 |
1264 | CD 134 GTG>GAG | Hb North Shore | HBB:c.404T>A | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71978 |
1265 | CD 135 GCT>CCT [Ala>Pro] | Hb Altdorf | HBB:c.406G>C | β | Causative | β-chain variant | NG_000007.3 | 71980 |
1266 | CD 135 GCT>GAT [Ala>Asp] | Hb Beckman | HBB:c.407C>A | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 71981 |
3034 | CD 137 GTG>TGG [Val>Trp] | Hb Allentown | HBB:c.412_413delinsTG | β | Causative | β-chain variant | NG_000007.3 | 71986 |
264 | CD 137-139 (-TGGCTA) Val-Ala-Asn to Asp | Hb Stara Zagora | HBB:c.413_418delTGGCTA | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71987 |
1274 | CD 138 GCT>CCT [Ala>Pro] | Hb Brockton | HBB:c.415G>C | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 71989 |
1278 | CD 139 AAT>GAT | Hb Geelong | HBB:c.418A>G | β | Causative | β-chain variant | NG_000007.3 | 71992 |
1279 | CD 139 AAT>TAT [Asn>Tyr]; CD 138 (-GCT) [-Ala] (Hb Nykerk) | Hb Nijkerk | HBB:c.[418A>T;415_417delGCT] | β | Causative | β-chain variant, Haemolytic anaemia | NG_000007.3 | 71992 |
2282 | CD 139/140 +T [163 aa] | Hb Boston-Kuwait | HBB:c.420dupT | β | Causative | β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 71994 |
1283 | CD 140 GCC>GAC [Ala>Asp] | Hb Himeji | HBB:c.422C>A | β | Causative | β-chain variant | NG_000007.3 | 71996 |
1284 | CD 140 GCC>GTC | Hb Puttelange | HBB:c.422C>T | β | Causative | β-chain variant | NG_000007.3 | 71996 |
1287 | CD 141 (-CTG) | Hb Coventry | HBB:c.424_426delCTG | β | Causative | β-chain variant | NG_000007.3 | 71998 |
1288 | CD 141-144 (-TGGCCCACA) | Hb Birmingham | HBB:c.425_433delTGGCCCACA | β | Causative | β-chain variant | NG_000007.3 | 71999 |
1289 | CD 141 CTG>CGG | Hb Olmsted | HBB:c.425T>G | β | Causative | β-chain variant | NG_000007.3 | 71999 |
1292 | CD 142 GCC>CCC | Hb Toyoake | HBB:c.427G>C | β | Causative | β-chain variant | NG_000007.3 | 72001 |
1294 | CD 143 (-A) | Hb Saverne | HBB:c.431delA | β | Causative | β-chain variant | NG_000007.3 | 72005 |
1302 | CD 144 (-A) | Hb Trento | HBB:c.434delA | β | Causative | β-chain variant | NG_000007.3 | 72008 |
1306 | CD 145 (+CT) | Hb Cranston | HBB:c.436_437insCT | β | Causative | β-chain variant | NG_000007.3 | 72010 |
1319 | CD 146/147 (+AC) | Hb Tak | HBB:c.440_441dupAC | β | Causative | β-chain variant | NG_000007.3 | 72014 |
3697 | CD 147 TAA>ΑAA [Stop>Lys] | Hb Mokum | HBB:c.442T>A | β | Causative | β-thalassaemia, β-chain variant | NG_000007.3 | 72016 |
269 | 3'UTR -13 bp [CAP +1567 to +1579] | N/A | HBB:c.*93_*105delATCTGGATTCTGC | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 72111 |
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IthaGenes was last updated on 2024-12-03 11:48:06