Loading... Please wait!
Quick filtering
Showing all entries involving gene Gγ (Show All):
IthaID | Common Name | Hb Name | HGVS Name | Genes | Functionality | Phenotype | Locus | Position |
---|---|---|---|---|---|---|---|---|
1542 | Dutch I (εγδβ)0 | N/A | NC_000011.10:g.5229432_5329263del | βLCR, ε, Aγ, Gγ, δ, pseudo β | Causative | εγδβ-thalassaemia, Haemolytic anaemia | NG_000007.3 | |
1549 | Dutch IV | N/A | NC_000011.10:g.(5245669_5248365)_(5440251_5470849)del | βLCR, ε, Aγ, Gγ, OR51B5, OR51B6 | Causative | εγδβ-thalassaemia | NG_000007.3 | |
2159 | (εγδβ)0 with α triplication | N/A | N/A | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | |
2418 | Swiss (εγδβ)0 | N/A | NC_000011.10:g.(4002734_4002784)_ (6907712_6907762)del | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia, Haemolytic anaemia | NG_000007.3 | |
2548 | Inv-Del English V | N/A | NC_000011.10:g.5194460_5253454invdel5194460_5194542del5253454_5375965 | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | |
3112 | African II duplication | N/A | NC_000011.10:g.5268938_5268939ins4619102_(5180070_5183700)ins(5216190_5222040)_5268938 | ε, Aγ, Gγ, δ, β, pseudo β | Neutral | N/A | NG_000007.3 | |
3435 | Gγ-Atlanta HPFH (Atlanta type of HPFH, Atlanta non-deletional HPFH) | N/A | N/A | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | |
3436 | Yugoslavian non-deletional HPFH | N/A | N/A | Aγ, Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | |
3570 | 1.78Mb εγδβ(0) del (Bedouin) | N/A | NC_000011.10:g.(4302665_4322227)_(6099443_6100105)del | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia, Haemolytic anaemia | NG_000007.3 | |
3578 | 2.2 Mb deletion | N/A | NC_000011.10:g.4052720_6253287del | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia, Haemolytic anaemia | NG_000007.3 | |
3606 | 177 Kb deletion | N/A | NC_000011.10:g.5241050_5418009del | βLCR, ε, Aγ, Gγ, pseudo β, OR51B5, OR51B6, OR51M1, OR51B2 | Causative | εγδβ-thalassaemia | NG_000007.3 | |
1534 | Anglo-Saxon (εγδβ)0 | N/A | NC_000011.8:g.5204501_5300223del | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
1535 | Irish (εγδβ)0 | N/A | NC_000011.8:g.5110112_5312961del | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
1536 | Canadian (εγδβ)0 | N/A | N/A | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
1537 | Scottish - Irish | N/A | N/A | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
1538 | English I (εγδβ)0 | N/A | N/A | βLCR, ε, Gγ | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
1539 | Mexican (εγδβ)0 | N/A | N/A | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
1541 | Croatian (εγδβ)0 | N/A | NC_000011.10:g.(5151491_5158092)_(5285862_5295096)del | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
1544 | English III | N/A | N/A | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
1545 | English IV | N/A | NC_000011.10:g.5156866_5595894del | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
1546 | Chilean | N/A | N/A | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
1547 | Dutch II | N/A | NC_000011.10:g.(?_4999945)_(5409809_5430440)del | βLCR, ε, Aγ, Gγ, δ, β, pseudo β, OR51V1, OR51B5, OR51M1 | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
1548 | Dutch III | N/A | NC_000011.10:g.5248950_5360936delinsGGGAGACTGATATA | βLCR, ε, Aγ, Gγ | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
1551 | Dutch VI | N/A | NC_000011.10:g.(?_5227218)_(5373082_5382848)del | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
1552 | Japanese | N/A | NC_000011.10:g.4600605_6019332delinsCACTTGGTTATGATGTATT | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
1553 | French | N/A | N/A | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
2158 | Pakistani I | N/A | NC_000011.10:g.5194461_5700474delins[250inv] | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
2163 | Norwegian (εγδβ)0 | N/A | NC_000011.10:g.5228098_5358569del | βLCR, ε, Aγ, Gγ, δ, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
2167 | Asian Indian (εγδβ)0 | N/A | N/A | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
2550 | African I duplication | N/A | NC_000011.10: g.5372677_5372678insCACCTCCACTTdup5226885_5372677 | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Neutral | N/A | NG_000007.3 | 0 |
2551 | Austrian I | N/A | N/A | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
3073 | Italian (εγδβ)0 deletion | N/A | NC_000011.10:g.[5194397_5357192del;5194356_5194401insAGCTAAAGGTTTTGTAAATGCACCAATCAGCAATCTGTGTCTAACTC] | ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
3340 | Brazilian (εγδβ)0 | N/A | NC_000011.10:g.(5106498_5151836)_(5324046_5390135)del | βLCR, ε, Aγ, Gγ, δ, β, pseudo β, OR51V1, OR51B2 | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
3577 | 59 Kb deletion | N/A | NC_000011.10:g.5236469_5295261del | βLCR, ε, Aγ, Gγ | Causative | εγδβ-thalassaemia, Haemolytic anaemia | NG_000007.3 | 2355 |
3849 | ~72 kb εγδβ(0) del | N/A | NC_000011.10:g.(5200032_5215881)_(5288356_5295076)del | βLCR, ε, Aγ, Gγ, δ, β, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 9260 |
3270 | Chinese I (εγδβ)0 | N/A | NC_000011.10:g.5036736_5270337del | ε, Aγ, Gγ, δ, β, pseudo β, OR51V1 | Causative | εγδβ-thalassaemia | NG_000007.3 | 27279 |
3868 | >35.3 Kb deletion | N/A | NG_000007.3:g.(21655_27675)_(63032_64586)del | ε, Aγ, Gγ, δ, pseudo β | Causative | εγδβ-thalassaemia | NG_000007.3 | 27675 |
2825 | rs10128653 | N/A | NG_000007.3:g.41385T>G | Gγ | Modifier | Hb F levels | NG_000007.3 | 41385 |
3869 | >29.5 Kb duplication | N/A | NG_000007.3:g.(27675_41485)_(71150_72080)dup | Aγ, Gγ, δ, β, pseudo β | Causative | β-thalassaemia | NG_000007.3 | 41485 |
3596 | Gγ duplication (-Gγ-Gγ-, HBG2 duplication) | N/A | NG_000007.3:g.(41526_42954)_(48036_49186)del | Gγ | Neutral | N/A | NG_000007.3 | 41526 |
3411 | rs2855121 | N/A | NG_000007.3:g.41555G>A | Gγ | Modifier | Hb F levels, Severity | NG_000007.3 | 41555 |
2826 | rs2855122 | N/A | NG_000007.3:g.41610G>A | Gγ | Modifier | Hb F levels | NG_000007.3 | 41610 |
2874 | rs2855123 | N/A | NG_000007.3:g.41768T>A | Gγ | Modifier | Hb F levels, Severity | NG_000007.3 | 41768 |
3816 | rs2011051 | N/A | NG_000007.3:g.42028C>A | Gγ | Modifier | Severity | NG_000007.3 | 42028 |
1554 | -567 T>G (Iranian non-deletional HPFH) | N/A | HBG2:c.-620T>G | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42268 |
3272 | -533 (-ATAAG) | N/A | HBG2:c.-533_-529delATAAG | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42302 |
1555 | -202 C>G (Black non-deletional HPFH) | N/A | HBG2:c.-255C>G | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42633 |
3943 | -200 (+CC) | N/A | HBG2:c.-253_-254dup | Gγ | Causative | HPFH | NG_000007.3 | 42634 |
1556 | -200 +C (Tunisian non-deletional HPFH) | N/A | HBG2:c.-253dup | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42635 |
2300 | -197 C>T | N/A | HBG2:c.-250c>T | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42638 |
1557 | -196 C>T (Greek non-deletional HPFH) | N/A | HBG2:c.-249C>T | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42639 |
1558 | -175 T>C (Black/Sardinian/British non-deletional HPFH) | N/A | HBG2:c.-228T>C | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42660 |
2127 | -158 C>T (XmnI, rs7482144) | N/A | NG_000007.3:g.42677C>T | Gγ | Modifier | Hb F levels, Pain, Hb F response to hydroxyurea, F-cell numbers, Anaemia, Severity | NG_000007.3 | 42677 |
3790 | -125 C>T | N/A | HBG2:c.-177C>T | Gγ | Causative | HPFH | NG_000007.3 | 42710 |
1559 | -114 C>G (Australian non-deletional HPFH) | N/A | HBG2:c.-167C>G | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42721 |
1560 | -114 C>A (Algerian non-deletional HPFH) | N/A | HBG2:c.-167C>A | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42721 |
1561 | -114 C>T (Japanese non-deletional HPFH) | N/A | HBG2:c.-167C>T | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42721 |
1562 | -110 A>C (Czech non-deletional HPFH) | N/A | HBG2:c.-163A>C | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42725 |
1563 | -109 G>T (Greek non-deletional HPFH) | N/A | HBG2:c.-162A>C | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42726 |
1564 | -37 A>T (Belgian non-deletional HPFH) | N/A | HBG2:c.-90A>T | Gγ | Causative | HPFH, Hb F levels | NG_000007.3 | 42798 |
3162 | rs1894397 | N/A | NG_000007.3:g.42859G>A | Gγ | Modifier | Hb F levels | NG_000007.3 | 42859 |
1406 | CD 1 GGT>TGT | Hb F-Malaysia | HBG2:c.4G>T | Gγ | Causative | γ-chain variant | NG_000007.3 | 42891 |
2449 | CD 1 GGT>AGT [Gly>Ser] | Hb F-Montchat | HBG2:c.4G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 42891 |
3319 | CD 1 GGT>GAT [Gly>Asp] | Hb F-Hayward | HBG2:c.5G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 42892 |
1407 | CD 5 GAG>GGG | Hb F-Meinohama | HBG2:c.17A>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 42904 |
1409 | CD 7 GAC>AAC | Hb F-Auckland | HBG2:c.22G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 42909 |
1410 | CD 8 AAG>CAG or GAG | Hb F-Albaicin | HBG2:c.25A>C | HBG2:c.25A>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 42912 |
1412 | CD 12 ACA>AGA [Thr>Arg] | Hb F-Heather | HBG2:c.38C>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 42925 |
3804 | CD 13 AGC>AGA [Ser>Arg] | Hb F-Millennium Park | HBG2:c.42C>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 42929 |
1413 | CD 15 TGG>CGG | Hb F-Catalonia | HBG2:c.46T>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 42933 |
1414 | CD 16 GGC>CGC | Hb F-Melbourne | HBG2:c.49G>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 42936 |
1415 | CD 17 AAG>AAC or AAT | Hb F-Clamart | HBG2:c.54G>C | HBG2:c.54G>T | Gγ | Causative | γ-chain variant | NG_000007.3 | 42941 |
2149 | N/A (Hb Gγ-β Ulsan) | Hb Ulsan | NG_000007.3:g.42946_70654del | Aγ, Gγ, δ, β, pseudo β | Causative | β-chain variant | NG_000007.3 | 42946 |
1416 | CD 19 AAT>AAA or AAG | Hb F-Ouled Rabah | HBG2:c.60T>A | HBG2:c.60T>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 42947 |
1417 | CD 20 GTG>GCG | Hb F-Bron | HBG2:c.62T>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 42949 |
1418 | CD 21 GAA>AAA | Hb F-Saskatoon | HBG2:c.64G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 42951 |
1419 | CD 21 GAA>CAA | Hb F-Fuchu | HBG2:c.64G>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 42951 |
4099 | CD 22 GAT>CAT [Asp>His] | Hb F-Nancy | HBG2:c.67G>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 42954 |
1420 | CD 22 GAT>GTT | Hb F-Granada | HBG2:c.68A>T | Gγ | Causative | γ-chain variant | NG_000007.3 | 42955 |
1421 | CD 22 GAT>GGT | Hb F-Urumqi | HBG2:c.68A>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 42955 |
3566 | CD 24 GGA>GAA [Gly>Glu] | Hb F-Wentzville | HBG2:c.74G>A | Gγ | Causative | γ-chain variant, Haemolytic anaemia | NG_000007.3 | 42961 |
1422 | CD 25 GGA>GAA | Hb F-Cosenza | HBG2:c.77G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 42964 |
1423 | CD 26 GAA>AAA | Hb F-Oakland | HBG2:c.79G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 42966 |
3322 | CD 28 CTG>ATG [Leu>Met] | Hb F-M Viseu | HBG2:c.85C>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 42972 |
1424 | CD 34 GTC>ATC | Hb F-Tokyo | HBG2:c.103G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 43112 |
2428 | CD 37 TGG>GGG [Trp>Gly] | Hb F-Cobb II | HBG2:c.112T>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 43121 |
1425 | CD 38 ACC>CCC | Hb F-Bonheiden | HBG2:c.115A>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 43124 |
1426 | CD 40 AGG>GGG | Hb F-Veleta | HBG2:c.121A>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 43130 |
1427 | CD 40 AGG>AAG | Hb F-Austell | HBG2:c.122G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 43131 |
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 |
1428 | CD 41 TTC>TCC | Hb F-Cincinnati | HBG2:c.125T>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 43134 |
1429 | CD 44 AGC>CGC | Hb F-Lodz | HBG2:c.133A>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 43142 |
3608 | CD 50 (TCT>TGT);CD 75(ATA>ACA) | Hb F-Madrid | HBG2:c.[152C>G;227T>C] | Gγ | Causative | γ-chain variant | NG_000007.3 | 43161 |
1430 | CD 55 ATG>AGG | Hb F-Kingston | HBG2:c.167T>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 43176 |
1431 | CD 59 AAA>CAA | Hb F-Sacromonte | HBG2:c.178A>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 43187 |
1432 | CD 59 AAA>GAA | Hb F-Emirates | HBG2:c.178A>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 43187 |
2552 | CD 59 AAA>AGA [Lys>Arg] | Hb F-Augusta GA | HBG2:c.179A>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 43188 |
1433 | CD 63 CAT>TAT | Hb F-M-Osaka | HBG2:c.190C>T | Gγ | Causative | γ-chain variant | NG_000007.3 | 43199 |
3369 | CD 63 CAT>CTT [His>Leu] | Hb F-Circleville | HBG2:c.191A>T | Gγ | Causative | γ-chain variant | NG_000007.3 | 43200 |
2471 | CD 64 GGC>GAC [Gly>Asp] | Hb F-Turritana | HBG2:c.194G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 43203 |
1434 | CD 65 AAG>AAT or AAC | Hb F-Clarke | HBG2:c.198G>C | HBG2:c.198G>T | Gγ | Causative | γ-chain variant | NG_000007.3 | 43207 |
1435 | CD 66 AAG>CAG | Hb F-Brooklyn | HBG2:c.199A>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 43208 |
1436 | CD 66 AAG>AGG | Hb F-Shanghai | HBG2:c.200A>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 43209 |
2435 | CD 67 GTG>ATG [Val>Met] (Hb F-Heuried) | Hb Toms River | HBG2:c.202G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 43211 |
1437 | CD 72 GGA>CGA | Hb F-Minoo | HBG2:c.217G>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 43226 |
1438 | CD 73 GAT>GCT | Hb F-Joanopolis | HBG2:c.221A>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 43230 |
1439 | CD 75 ATA>GTA | Hb F-Coigneres | HBG2:c.226A>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 43235 |
1440 | CD 75 ATA>ACA | Hb F-Lesvos | HBG2:c.227T>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 43236 |
1441 | CD 77 CAC>CGC | Hb F-Kennestone | HBG2:c.233A>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 43242 |
1442 | CD 79 GAT>CAT [Asp>His] | Hb F-Saint-Etienne | HBG2:c.238G>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 43247 |
3803 | CD 79 GAT>GGT [Asp>Gly] | Hb F-Northerly Island | HBG2:c.239A>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 43248 |
1443 | CD 80 GAT>AAT | Hb F-Marietta | HBG2:c.241G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 43250 |
1444 | CD 80 GAT>TAT [Asp>Tyr] | Hb F-Paulinia | HBG2:c.241G>T | Gγ | Causative | γ-chain variant | NG_000007.3 | 43250 |
3389 | CD 89 AGT>AAT [Ser>Asn] | Hb F-Careggi | HBG2:c.269G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 43278 |
1445 | CD 92 CAC>TAC | Hb F-M-Fort Ripley | HBG2:c.277C>T | Gγ | Causative | γ-chain variant | NG_000007.3 | 43286 |
2395 | CD 93 TGT>CGT [Cys>Arg] | Hb F-Monserrato-Sassari | HBG2:c.280T>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 43289 |
1446 | CD 94 GAC>AAC | Hb F-Columbus-GA | HBG2:c.283G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 43292 |
1447 | CD 97 CAT>CGT [His>Arg] | Hb F-Lyon | HBG2:c.293A>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 43302 |
1448 | CD 101 GAG>CAG [Glu>Gln] | Hb F-Zheijang | HBG2:c.304G>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 43313 |
1449 | CD 101 GAG>AAG | Hb F-La Grange | HBG2:c.304G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 43313 |
1450 | CD 102 AAC>ACC [Asn>Thr] | Hb F-Sarajevo | HBG2:c.308A>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 43317 |
1451 | CD 104 AAG>AAC | Hb F-Macedonia-II | HBG2:c.315G>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 43324 |
2459 | CD 105 CTC>CAC [Leu>His] | Hb F-Brugine/Feldkirch | HBG2:c.317T>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 43326 |
3959 | HBG1-HBG2 deletion | N/A | NG_000007.3:g.43348_48271del | Aγ, Gγ | Neutral | N/A | NG_000007.3 | 43348 |
3815 | rs2070973 | N/A | NG_000007.3:g.43439A>G | Gγ | Modifier | Severity | NG_000007.3 | 43439 |
3161 | rs11036475 | N/A | NG_000007.3:g.43606C>T | Gγ | Modifier | Hb F levels | NG_000007.3 | 43606 |
3160 | rs11036474 | N/A | NG_000007.3:g.43668A>G | Gγ | Modifier | Hb F levels | NG_000007.3 | 43668 |
2804 | rs2070972 | N/A | NG_000007.3:g.44129T>G | Gγ | Modifier | Hb F levels, Severity | NG_000007.3 | 44129 |
1453 | CD 117 CAT>CGT | Hb F-Malta-I | HBG2:c.353A>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 44248 |
1454 | CD 118 TTC>CTC | Hb F-Calabria | HBG2:c.355T>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 44250 |
3891 | CD 119 GGC>CGC [Gly>Arg] | Hb F-Pill Hill | HBG2:c.358G>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 44253 |
1455 | CD 120 AAA>CAA | Hb F-Caltech | HBG2:c.361A>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 44256 |
1456 | CD 121 GAA>AAA | Hb F-Carlton | HBG2:c.364G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 44259 |
1457 | CD 125 GAG>GCG | Hb F-Port Royal | HBG2:c.377A>C | Gγ | Causative | γ-chain variant | NG_000007.3 | 44272 |
1458 | CD 130 TGG>GGG | Hb F-Poole | HBG2:c.391T>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 44286 |
2450 | CD 136 GGA>GAA [Gly>Glu] | Hb F-Privas | HBG2:c.410G>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 44305 |
3950 | CD 140 GCC>GAC [Ala>Asp] | Hb F-Wyandotte | HBG2:c.422C>A | Gγ | Causative | γ-chain variant | NG_000007.3 | 44317 |
1459 | CD 146 CAC>TAC | Hb F-Onoda | HBG2:c.439C>T | Gγ | Causative | γ-chain variant | NG_000007.3 | 44334 |
2394 | CD 146 CAC>CGC [His>Arg] | Hb F-Istambul | HBG2:c.440A>G | Gγ | Causative | γ-chain variant | NG_000007.3 | 44335 |
3813 | rs2236794 | N/A | NG_000007.3:g.44579G>A | Gγ | Modifier | Severity | NG_000007.3 | 44579 |
3105 | rs2255519 | N/A | NG_000007.3:g.45305C>T | Gγ | Modifier | Hb F levels | NG_000007.3 | 45305 |
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.
IthaGenes was last updated on 2024-09-28 12:00:32