IthaGenes

Loading... Please wait!

Quick filtering

Showing all entries with α⁺ phenotype (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
2555	α12 (HBA2 gene conversion)	N/A	N/A	α2, α1	Causative	α-thalassaemia	NG_000006.1
302	-α2.4	N/A	NG_000006.1:g.36860_39252del	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
306	-α7.9	N/A	NG_000006.1:g.28322_36260del	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
307	-α18 (18 kb deletion)	N/A	N/A	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
2233	-ζ	N/A	N/A	ζ	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
2234	-α16.6	N/A	NG_000006.1:g.(19842_19845)_(36479_36486)delins22446_24085inv	ζ, α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
2235	α-αΔ970 (970 bp deletion)	N/A	NG_000006.1:g.36599_37568delinsTAG	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
3142	-α6.3	N/A	NG_000006.1:g.31022_37366del6344	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
3440	-αMAL3.5	N/A	NG_000006.1:g.32745_36301del	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	0
2554	-α28.5	N/A	NG_000006.1g.7065_35627del28563	ζ, α2	Causative	α-thalassaemia	NG_000006.1	7065
2232	-α27.6	N/A	NG_000006.1:g.9079_36718del27640	ζ, α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	9079
2475	21.9 kb deletion with 29 bp insertion (Qinzhou type deletion)	N/A	NG_000006.1:g.[14373_36299del21927; insGGGAAGGGTGGGTGGGAATAACAGCTTTT]	ζ, α2	Causative	α-thalassaemia	NG_000006.1	14373
305	-α5.3	N/A	NG_000006.1:g.28684_33930del5246	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	28684
3603	-α6.9	N/A	NG_000006.1:g.29785_36746del	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	29785
301	-α4.2	N/A	NC_000016.10:g.169818_174075del	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	30681
3268	811 bp deletion	N/A	NG_000006.1:g.32945_33755	α2	Causative	α-thalassaemia	NG_000006.1	32945
3727	Cap +23 C>G	N/A	HBA2:c.-15C>G	α2	Causative	α-thalassaemia	NG_000006.1	33761
3051	Init CD ACCATG>-CCATG	N/A	HBA2:c.-3delA	α2	Causative	α-thalassaemia	NG_000006.1	33773
344	Init CD ATG>-TG	N/A	HBA2:c.1delA	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33776
3050	Init CD ATG>TTG [Met>Leu]	N/A	HBA2:c.1A>T	α2	Causative	α-thalassaemia	NG_000006.1	33776
3604	Init CD ATG>GTG [Met>Pro]	N/A	HBA2:c.1A>G	α2	Causative	α-thalassaemia	NG_000006.1	33776
342	Init CD ATG>ACG [Met>Thr]	N/A	HBA2:c.2T>C	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33777
343	Init CD ATG>A-G	N/A	HBA2:c.2delT	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33777
3754	Init CD ATG>AAG [Met>Lys]	N/A	HBA2:c.2T>A	α2	Causative	α-thalassaemia	NG_000006.1	33777
3027	Init CD ATG>ATT [Met>Ile]	Hb Valdecilla	HBA2:c.3G>T	α2	Causative	α-chain variant	NG_000006.1	33778
3564	Init CD ATG>ATC [Met>Ile]	N/A	HBA2:c.3G>C	α2	Causative	α-thalassaemia	NG_000006.1	33778
2206	CD 8 -C [48 aa]	N/A	HBA2:c.27delC	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	33802
2518	CD 14 TGG>TGA	N/A	HBA2:c.45G>A	α2	Causative	α-thalassaemia	NG_000006.1	33820
350	CD 18 GGC>G-C	N/A	HBA2:c.56delG	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33831
351	CD 21 GCT>TCT [Ala>Ser]	Hb Zoetermeer	HBA2:c.64G>T	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	33839
2207	CD 21/22 +T	N/A	HBA2:c.66dupT	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33841
352	CD 22 GGC>GGT new donor consensus	N/A	HBA2:c.69C>T	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33844
353	CD 22 -C	N/A	HBA2:c.69delC	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33844
354	CD 23 GAG>TAG [Glu>STOP]	N/A	HBA2:c.70G>T	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33845
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
2208	CD 24 TAT>TAG	N/A	HBA2:c.75T>G	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33850
2488	CD 24 TAT>TAA	N/A	HBA2:c.75T>A	α2	Causative	α-thalassaemia	NG_000006.1	33850
2538	CD 25 GGT>GAT [Gly>Asp]	Hb Cibeles	HBA2:c.77G>A	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	33852
355	CD 26 GCG>ACG [Ala>Thr]	Hb Caserta	HBA2:c.79G>A	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	33854
356	CD 29 CTG>CCG [Leu>Pro]	Hb Agrinio	HBA2:c.89T>C	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	33864
365	CD 31 AGG>--G	N/A	HBA2:c.94_95del	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33869
2210	CD 31 AGG>CGG [Arg>Arg]	N/A	HBA2:c.94A>C	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33869
2487	CD 31 AGG>GGG [Arg>Gly]	Hb Maranon	HBA2:c.94A>G	α2	Causative	α-thalassaemia, α-chain variant	NG_000006.1	33869
3217	CD 31 AGG>TGG [Arg>Trp]	Hb Debao	HBA2:c.94A>T	α2	Causative	α-thalassaemia, α-chain variant	NG_000006.1	33869
359	IVS I-1 (-5 bp) GAGGTGAGG>GAGG----- donor (α-5nt)	N/A	HBA2:c.95+2_95+6delTGAGG	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33872
360	IVS I-5 G>A	N/A	HBA2:c.95+5 G>A	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33875
362	IVS I-55 G>A	N/A	HBA2:c.95+55 G>A	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33925
363	IVS I-116 GCAGGA>GCGGGA acceptor	N/A	HBA2:c.96-2A>G	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33986
2209	CD 32 ATG>AGG [Met>Arg] (Hb Gran Vía)	Hb Rotterdam	HBA2:c.98T>G	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	33990
368	CD 33 T>C	Hb Chartres	HBA2:c.101T>C	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	33993
2211	CD 37 CCC>CC-	N/A	HBA2:c.114delC	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34006
372	CD 39-41 (-9 bp, + 8 bp)	N/A	NG_000006.1:g.34010_34018delinsTACTTCCC	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34010
3765	CD 39 (-ACC) [-Thr]	Hb Taybe	HBA2:c.118_120del	α2	Causative	α-thalassaemia, α-chain variant	NG_000006.1	34010
2493	CD 40 AAG>AA-	N/A	HBA2:c.123delG	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34015
373	CD 42 TAC>CAC [Tyr>His]	Hb Barika	HBA2:c.127T>C	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34019
2214	CD 43 TTC>T-C	N/A	HBA2:c.131delT	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34023
2215	CD 43/44 -C	N/A	HBA2:c.132delC	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34024
2216	CD 47 -A	N/A	HBA2:c.143delA	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34035
3053	CD 47/48 (-4bp): (-ACCT)	N/A	HBA2:c.143_146delACCT	α2	Causative	α-thalassaemia	NG_000006.1	34035
374	CD 49 -GC	N/A	HBA2:c.149_150delGC	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34041
2217	CD 51/52 +G	N/A	HBA2:c.156_157insG	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34048
376	CD 54 (CAG>TAG)	N/A	HBA2:c.163C>T	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34055
3079	CD 55 +T	N/A	HBA2:c.168dup	α2	Causative	α-thalassaemia	NG_000006.1	34060
3054	CD 56 AAG>--G	N/A	HBA2:c.169_170delAA	α2	Causative	α-thalassaemia	NG_000006.1	34061
379	CD 59 GGC>CGC [Gly>Arg]	Hb Zurich-Albisrieden	HBA2:c.178G>C	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34070
3286	CD 61 AAG>TAG [Lys>STOP]	N/A	HBA2:c.184A>T	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34076
2218	CD 63-76 (-42 bp)	N/A	HBA2:c.190_231del	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34082
2576	CD 68 AAC>A-C	N/A	HBA2:c.206delA	α2	Causative	α-thalassaemia	NG_000006.1	34098
3055	CD 73/74 (-4bp): (-GTGG)	N/A	HBA2:c.220_223delGTGG	α2	Causative	α-thalassaemia	NG_000006.1	34112
611	CD 74/75 -GAC [-Asp]	Hb Watts	HBA2:c.226_228delGAC	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34118
388	CD 90 AAG>TAG	N/A	HBA2:c.271A>T	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34163
3572	CD 90‐93 (-8bp): (‐AGCTTCGG)	N/A	HBA2:c.272_279delAGCTTCGG	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34164
389	CD 93 GTG>GGG [Val>Gly]	Hb Bronte	HBA2:c.281T>G	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34173
3080	CD 94 (+21 bp duplication)	Hb SKMC	HBA2:c.283_300+3dup	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34175
300	-α3.7 (type I) (-α3.7)	N/A	NG_000006.1:g.34247_38050del	α2, α1, α3.7 hybrid	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34247
2430	203 bp deletion	N/A	NG_000006.1:g.34305_34507del203	α2	Causative	α-thalassaemia	NG_000006.1	34305
392	IVS II-142 G>A	N/A	HBA2:c.301-1G>A	α2	Causative	α-thalassaemia	NG_000006.1	34334
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
394	CD 103 CAC>CTC [His>Leu]	Hb Bronovo	HBA2:c.311A>T	α2	Causative	α-thalassaemia, α-chain variant	NG_000006.1	34345
3056	CD 104 TGC>AGC [Cys>Ser]	Hb Oegstgeest	HBA2:c.313T>A	α2	Causative	α-thalassaemia, α-chain variant	NG_000006.1	34347
396	CD 104 TGC>TAC [Cys>Tyr]	Hb Sallanches	HBA2:c.314G>A	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34348
397	CD 108 ACC>AAC [Thr>Asn]	Hb Bleuland	HBA2:c.326C>A	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34360
399	CD 109 CTG>CGG [Leu>Arg]	Hb Suan Dok	HBA2:c.329T>G	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34363
2571	CD 109 CTG>CCG [Leu>Pro]	Hb Milano	HBA1:c.329T>C	α1	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34363
401	CD 110 GCC>GAC [Ala>Asp]	Hb Petah Tikva	HBA1:c.332C>A \| HBA2:c.332C>A	α1 or α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34366
402	CD 112/113 -C	N/A	HBA2:c.339delC	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34373
2527	CD 114 (+CC)	N/A	HBA2:c.344_345dup	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34378
3140	CD 114 CCC>CC-	N/A	HBA2:c.345delC	α2	Causative	α-thalassaemia	NG_000006.1	34379
405	CD 116 GAG>TAG	N/A	HBA2:c.349G>T	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34383
2221	CD 115 -GAGTTCACCCC [166 aa]	N/A	HBA2:c.349_359delGAGTTCACCCC	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34383
2023	CD 117 TTC>TCC [Phe>Ser]	Hb Foggia	HBA2:c.353T>C	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34387
2951	CD 118 ACC>ATC [Thr>Ile]	Hb Cervantes	HBA2:c.356C>T	α2	Causative	α-thalassaemia, α-chain variant	NG_000006.1	34390
408	CD 125 CTG>CCG [Leu>Pro]	Hb Quong Sze	HBA2:c.377T>C	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34411
409	CD 125 CTG>CGG [Leu>Arg]	Hb Plasencia	HBA2:c.377T>G	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34411
3305	CD 126 GCG>-CG	N/A	HBA2:c.379delG	α2	Causative	α-thalassaemia	NG_000006.1	34413
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
413	CD 130 GCT>CCT [Ala>Pro]	Hb Sun Prairie	HBA2:c.391G>C	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34425
414	CD 131 TCT>CCT [Ser>Pro]	Hb Questembert	HBA2:c.394T>C	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34428
415	CD 132 GTG>GGG [Val>Gly]	Hb Caen	HBA1:c.398T>G \| HBA2:c.398T>G	α1 or α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34432
417	CD 136 CTG>CCG [Leu>Pro]	Hb Bibba	HBA2:c.410T>C	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34444
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
421	CD 142 (TAA>GAA) >172aa	Hb Seal Rock	HBA2:c.427T>G	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34461
420	CD 142 TAA>TCA >172aa	Hb Koya Dora	HBA2:c.428A>C	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34462
422	CD 142 (TAA>TAT) >172aa	Hb Paksé	HBA2:c.429A>T	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34463
2230	-α3.7 (type II)	N/A	NG_000006.1:g.34478_38288del	α2, α1, α3.7 hybrid	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34478
2226	3'UTR +46 C>A	N/A	HBA2:c.*46C>A	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34509
2231	-α3.7 (type III)	N/A	NG_000006.1:g.34570_38381del	α2, α1, α3.7 hybrid	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34570
303	-α2.7	N/A	NG_000006.1:g.36664_39364del2701	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	36664
304	-α3.5	N/A	NG_000006.1:g.37464_40964del3501	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37464
340	CAP +22 T>C	N/A	HBA1:c.-16T>C	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37564
3735	Cap +23 C>G	N/A	HBA1:c.-15C>G	α1	Causative	α-thalassaemia	NG_000006.1	37565
2203	CAP +29 (G>C)	N/A	HBA1:c.-9G>C	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37571
341	Init CD ATG>GTG	N/A	HBA1:c.1A>G	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37580
3147	Init CD ATG>AAG [Met>Lys]	N/A	HBA1:c.2T>A	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37581
3719	Init CD ATG>ACG [Met>Thr]	N/A	HBA1:c.2T>C	α1	Causative	α-thalassaemia	NG_000006.1	37581
347	CD 14 TGG>CGG [Trp>Arg]	Hb Evanston	HBA1:c.43T>C	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	37622
349	CD 14 TGG>TAG [Trp>STOP]	N/A	HBA1:c.44G>A	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37623
3395	CD 16 AAG>TAG [Lys>STOP]	N/A	HBA1:c.49A>T	α1	Causative	α-thalassaemia	NG_000006.1	37628
2205	CD 20 +T	N/A	HBA1:c.62_63insT	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	37641
3032	CD 28 GCC>TCC [Ala>Ser]	N/A	HBA1:c.85G>T	α1	Causative	α-thalassaemia	NG_000006.1	37664
3030	CD 30 GAG>TAG	N/A	HBA1:c.91G>T	α1	Causative	α-thalassaemia	NG_000006.1	37670
358	IVS I-1 AGGT>AGAT donor	N/A	HBA1:c.95+1G>A	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37675
3049	IVS I-1 AGGT>AGCT donor	N/A	HBA1:c.95+1G>C	α1	Causative	α-thalassaemia	NG_000006.1	37675
2204	IVS I-4 A>G	N/A	HBA1:c.95+4A>G	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37678
361	IVS I-5 G>A	N/A	HBA1:c.95+5 G>A	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37679
2212	IVS I-45 G>C	N/A	HBA1:c.95+45G>C	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37719
364	IVS I-117 GCAGGA>GCAAGA acceptor	N/A	HBA1:c.96-1G>A	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37791
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
371	CD 39 (-ACC) [-Thr]	Hb Taybe	HBA1:c.118_120del	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	37814
3403	CD 39 +A	N/A	HBA2:c.118_119insA	α2	Causative	α-thalassaemia	NG_000006.1	37814
375	CD 51-55 (-13 bp deletion)	N/A	HBA1:c.155_167delGCTCTGCCCAGGT	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37851
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
378	CD 59 GGC>GAC [Gly>Asp]	Hb Adana	HBA1:c.179G>A	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	37875
381	CD 62 (-GTG) [-Val]	Hb Aghia Sophia	HBA1:c.187_189del	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	37883
382	CD 62 GTG>-TG	Hb Champaign	HBA1:c.187delG	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	37883
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
3788	CD 65 GCG>CCG [Ala>Pro]	Hb Maruchi	HBA1:c.196G>C	α1	Causative	α-thalassaemia, α-chain variant	NG_000006.1	37892
385	CD 74/75 -GAC [- Asp]	N/A	HBA1:c.212_214delGAC	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37908
3326	CD 73 GTG>G-G	N/A	HBA1:c.221delT	α1	Causative	α-thalassaemia	NG_000006.1	37917
3875	CD 74 GAC>GAG [Asp>Glu]	Hb Jishui	HBA1:c.225C>G	α1	Causative	α-chain variant	NG_000006.1	37921
386	CD 78 -C	N/A	HBA1:c.237delC	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37933
2219	CD 81 -T	N/A	HBA2:c.244delT	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37940
387	CD 82-84 (-9 bp)	N/A	HBA1:c.247_255del	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37943
3852	CD 93 GTG>ATG [Val>Met]	Hb Qingcheng	HBA1:c.280G>A	α1	Causative	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
3031	IVS II-1 G>A	N/A	HBA1:c.300+1G>A	α1	Causative	α-thalassaemia	NG_000006.1	37997
3737	IVS II-58 G>A	N/A	HBA1:c.300+58G>A	α1	Causative	α-thalassaemia	NG_000006.1	38054
2222	IVS II-147 C>G	N/A	HBA1:c.301-3C>G	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	38143
393	IVS II-148 A>G consensus	N/A	HBA1:c.301-2A>G	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	38144
395	CD 104 TGC>AGC [Cys>Ser]	Hb Oegstgeest	HBA1:c.313T>A	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	38158
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
2224	CD 110-114 (-13 bp)	N/A	HBA1:c.333_345delCGCCCACCTCCCC	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	38178
724	CD 117/118 +ATC [+Ile]	Hb Phnom Penh	HBA1:c.354_355insATC	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	38199
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
407	CD 123 GCC >CCC [Ala>Pro]	Hb Voreppe	HBA1:c.370G>C	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	38215
411	CD 129 CTG>CCG [Leu>Pro]	Hb Tunis-Bizerte	HBA1:c.391T>C	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	38236
3281	CD 130 (+T)	Hb Sichuan	HBA1:c.393_394insT	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	38238
416	CD 131 (+T) >175aa	Hb Pak Num Po	HBA1:c.396dup	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	38241
2225	Poly A (G>A) AATAAAG>AATAAAA	N/A	HBA1:c.*96G>A	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	38370
3739	TTS +23 (+T)	N/A	HBA1:c.134_135insT	α1	Causative	α-thalassaemia	NG_000006.1	38408

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.