IthaGenes

Loading... Please wait!

Quick filtering

Showing all entries involving gene α1 or α2 (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
3725	-4 G>C	N/A	HBA2:c.-41C>G \| HBA1:c.-41C>G	α1 or α2	Causative	α-thalassaemia	NG_000006.1	33735
432	CD 1 GTG>GGG [Val>Gly]	Hb Antananarivo	HBA1:c.5T>G \| HBA2:c.5T>G	α1 or α2	Causative	α-chain variant	NG_000006.1	33780, 37584
433	CD 1 GTG>GAG [Val>Glu]	Hb Thionville	HBA1:c.5T>A \| HBA2:c.5T>A	α1 or α2	Causative	α-chain variant	NG_000006.1	33780, 37584
435	CD 2 CTG>CGG [Leu>Arg]	Hb Chongqing	HBA1:c.8T>G \| HBA2:c.8T>G	α1 or α2	Causative	α-chain variant	NG_000006.1	33783, 37587
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
440	CD 5 GCC>CCC [Ala>Pro]	Hb Karachi	HBA1:c.16G>C \| HBA2:c.16G>C	α1 or α2	Causative	α-chain variant	NG_000006.1	33791, 37595
441	CD 5 GCC>GAC [Ala>Asp]	Hb J-Toronto	HBA1:c.17C>A \| HBA2:c.17C>A	α1 or α2	Causative	α-chain variant	NG_000006.1	33792, 37596
443	CD 6 GAC>AAC [Asp>Asn]	Hb Dunn	HBA1:c.19G>A \| HBA2:c.19G>A	α1 or α2	Causative	α-chain variant	NG_000006.1	33794, 37598
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	HBA1:c.20A>G \| HBA2:c.20A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	33795, 37599
448	CD 6 GAC>GTC [Asp>Val]	Hb Ferndown	HBA1:c.20A>T \| HBA2:c.20A>T	α1 or α2	Causative	α-chain variant	NG_000006.1	33795, 37599
449	CD 6 GAC>GCC [Asp>Ala]	Hb Sawara	HBA1:c.20A>C \| HBA2:c.20A>C	α1 or α2	Causative	α-chain variant	NG_000006.1	33795, 37599
450	CD 7 AAG>GAG [Lys>Glu]	Hb Kurosaki	HBA1:c.22A>G \| HBA2:c.22A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	33797, 37601
452	CD 7 AAG>AAC [Lys>Asn]	Hb Tatras	HBA1:c.24G>C \| HBA2:c.24G>C	α1 or α2	Causative	α-chain variant	NG_000006.1	33799, 37603
455	CD 9 AAC>ACC [Asn>Thr]	Hb Broomfield	HBA1:c.29A>C \| HBA2:c.29A>C	α1 or α2	Causative	α-chain variant	NG_000006.1	33804, 37608
458	CD 11 AAG>CAG [Lys>Gln]	Hb J-Wenchang-Wuming	HBA1:c.34A>C \| HBA2:c.34A>C	α1 or α2	Causative	α-chain variant	NG_000006.1	33809, 37613
459	CD 11 AAG>CAG [Lys>Glu]	Hb Anantharaj	HBA2:p.Lys12Glu \| HBA1:p.Lys12Glu	α1 or α2	Causative	α-chain variant	NG_000006.1	33809, 37613
460	CD 11 AAG>AAC or AAT [Lys>Asn]	Hb Albany-Suma	HBA1:c.36G>C \| HBA1:c.36G>T \| HBA2:c.36G>C \| HBA2:c.36G>T	α1 or α2	Causative	α-chain variant	NG_000006.1	33811, 37615
462	CD 13 GCC>CCC [Ala>Pro]	Hb Ravenscourt Park	HBA1:c.40G>C \| HBA2:c.40G>C	α1 or α2	Causative	α-chain variant	NG_000006.1	33815, 37619
465	CD 15 GGT>CGT [Gly>Arg] (Hb Siam)	Hb Ottawa	HBA1:c.46G>C \| HBA2:c.46G>C	α1 or α2	Causative	α-chain variant	NG_000006.1	33821, 37625
468	CD 16 AAG>ATG [Lys>Met]	Hb Harbin	HBA1:c.50A>T \| HBA2:c.50A>T	α1 or α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	33825, 37629
470	CD 16 AAG>AAC or AAT [Lys>Asn]	Hb Beijing	HBA1:c.51G>C \| HBA1:c.51G>T \| HBA2:c.51G>C \| HBA2:c.51G>T	α1 or α2	Causative	α-chain variant	NG_000006.1	33826, 37630
472	CD 18 GGC>GAC [Gly>Asp]	Hb Al-Ain Abu Dhabi	HBA1:c.56G>A \| HBA2:c.56G>A	α1 or α2	Causative	α-chain variant	NG_000006.1	33831, 37635
473	CD 19 GCG>GAG [Ala>Glu]	Hb J-Tashikuergan	HBA1:c.59C>A \| HBA2:c.59C>A	α1 or α2	Causative	α-chain variant	NG_000006.1	33834, 37638
474	CD 19 (GCC>GAC) [Ala>Asp]	Hb J-Kurosh	HBA2:p.Ala20Asp \| HBA1:p.Ala20Asp	α1 or α2	Causative	α-chain variant	NG_000006.1	33834, 37638
475	CD 20 CAC>TAC [His>Tyr]	Hb Necker Enfants-Malades	HBA1:c.61C>T \| HBA2:c.61C>T	α1 or α2	Causative	α-chain variant	NG_000006.1	33836, 37640
477	CD 20 CAC>CCC [His>Pro]	Hb Anderlecht	HBA1:c.62A>C \| HBA2:c.62A>C	α1 or α2	Causative	α-chain variant	NG_000006.1	33837, 37641
478	CD 20 CAC>CGC [His>Arg]	Hb Hobart	HBA1:c.62A>G \| HBA2:c.62A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	33837, 37641
482	CD 21 GCT>GAT [Ala>Asp]	Hb J-Nyanza	HBA1:c.65C>A \| HBA2:c.65C>A	α1 or α2	Causative	α-chain variant	NG_000006.1	33840, 37644
483	CD 22 GGC>GAC [Gly>Asp]	Hb J-Medellin	HBA1:c.68G>A \| HBA2:c.68G>A	α1 or α2	Causative	α-chain variant	NG_000006.1	33843, 37647
484	CD 23 GAG>CAG [Glu>Gln]	Hb Memphis	HBA1:c.70G>C \| HBA2:c.70G>C	α1 or α2	Causative	α-chain variant	NG_000006.1	33845, 37649
485	CD 23 GAG>AAG [Glu>Lys] (Hb E-Keelung)	Hb Chad	HBA1:c.70G>A \| HBA2:c.70G>A	α1 or α2	Causative	α-chain variant	NG_000006.1	33845, 37649
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
487	CD 23 GAG>GTG [Glu>Val]	Hb G-Audhali	HBA1:c.71A>T \| HBA2:c.71A>T	α1 or α2	Causative	α-chain variant	NG_000006.1	33846, 37650
488	CD 23 GAG>GAT [Glu>Asp]	Hb Lisbon	HBA1:c.72G>T \| HBA2:c.72G>T	α1 or α2	Causative	α-chain variant	NG_000006.1	33847, 37651
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
494	CD GCG>GAG [Ala>Glu]	Hb Shenyang	HBA1:c.80C>A \| HBA2:c.80C>A	α1 or α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	33855, 37659
495	CD 27 GAG>AAG [Glu>Lys]	Hb Shuangfeng	HBA1:c.82G>A \| HBA2:c.82G>A	α1 or α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	33857, 37661
496	CD 27 GAG>GGG [Glu>Gly]	Hb Fort Worth	HBA1:c.83A>G \| HBA2:c.83A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	33858, 37662
497	CD 27 GAG>GTG [Glu>Val]	Hb Spanish Town	HBA1:c.83A>T \| HBA2:c.83A>T	α1 or α2	Causative	α-chain variant	NG_000006.1	33858, 37662
498	CD 27 GAG>GCG [Glu>Ala]	Hb Hackney	HBA1:c.83A>C \| HBA2:c.83A>C	α1 or α2	Causative	α-chain variant	NG_000006.1	33858, 37662
502	CD 30 GAG>CAG [Glu>Gln] (Hb G-Chinese , Hb G-Hong Kong , Hb G-Singapore)	Hb G-Honolulu	HBA1:c.91G>C \| HBA2:c.91G>C	α1 or α2	Causative	α-chain variant	NG_000006.1	33866, 37670
503	CD 30 GAG>AAG [Glu>Lys]	Hb O-Padova	HBA1:c.91G>A \| HBA2:c.91G>A	α1 or α2	Causative	α-chain variant	NG_000006.1	33866, 37670
506	CD 31 AGG>AGC or AGT [Arg>Ser]	Hb Prato	HBA1:c.96G>C \| HBA1:c.96G>T \| HBA2:c.96G>C \| HBA2:c.96G>T	α1 or α2	Causative	α-chain variant	NG_000006.1	33988, 37792
515	CD 37 CCC>CGC [Pro>Arg]	Hb Boumerdes	HBA1:c.113C>G \| HBA2:c.113C>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34005, 37809
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
2319	CD 38 ACC>GCC [Thr>Ala]	Hb Beaconsfield	HBA1:c.115A>G \| HBA2:c.115A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34007, 37811
517	CD 38 ACC>ATC [Thr>Ile]	Hb Chelsea	HBA1:c.116C>T \| HBA2:c.116C>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34008, 37812
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
525	CD 41 ACC>TCC or AGC [Thr>Ser]	Hb Miyano	HBA1:c.124A>T \| HBA1:c.125C>G \| HBA2:c.124A>T \| HBA2:c.125C>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34016, 37820
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
532	CD 44 CCG>CGG [Pro>Arg]	Hb Kawachi	HBA1:c.134C>G \| HBA2:c.134C>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34026, 37830
533	CD 44 CCG>CTG [Pro>Leu]	Hb Milledgeville	HBA1:c.134C>T \| HBA2:c.134C>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34026, 37830
534	CD 45 CAC>TAC [His>Tyr]	Hb Matsudo	HBA1:c.136C>T \| HBA2:c.136C>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34028, 37832
535	CD 45 CAC>GAC [His>Asp]	Hb Poitiers	HBA1:c.136C>G \| HBA2:c.136C>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34028, 37832
536	CD 45 CAC>CGC [His>Arg]	Hb Fort de France	HBA1:c.137A>G \| HBA2:c.137A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34029, 37833
538	CD 45 CAC>CAG [His>Gln]	Hb Bari	HBA1:c.138C>G \| HBA2:c.138C>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34030, 37834
539	CD 46 TTC>TTG or TTA or CTC [Phe>Leu]	Hb Rockaway	HBA1:c.139T>C \| HBA1:c.141C>A \| HBA1:c.141C>G \| HBA2:c.139T>C \| HBA2:c.141C>A \| HBA2:c.141C>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34031, 37835
540	CD 46 TTC>GTC [Phe>Val]	Hb Hillingdon	HBA1:c.139T>G \| HBA2:c.139T>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34031, 37835
542	CD 47 GAC>AAC [Asp>Asn]	Hb Arya	HBA1:c.142G>A \| HBA2:c.142G>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34034, 37838
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
547	CD 48 CTG>CCG [Leu>Pro]	Hb Reading	HBA1:c.146T>C \| HBA2:c.146T>C	α1 or α2	Causative	α-chain variant	NG_000006.1	34038, 37842
2314	CD 50 CAC>TAC [His>Tyr]	Hb South Yorkshire	HBA1:c.151C>T \| HBA2:c.151C>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34043, 37847
550	CD 50 CAC>CTC [His>Leu]	Hb Dublin	HBA1:c.152A>T \| HBA2:c.152A>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34044, 37848
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
555	CD 51 GGC>GAC [Gly>Asp]	Hb J-Abidjan	HBA1:c.155G>A \| HBA2:c.155G>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34047, 37851
2423	CD 52 TCT>GCT [Ser>Ala]	Hb Cheshire	HBA1:c.157T>G \| HBA2:c.157T>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34049, 37853
558	CD 53 GCC>GAC [Ala>Asp]	Hb J-Rovigo	HBA1:c.161C>A \| HBA2:c.161C>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34053, 37857
559	CD 54 CAG>GAG [Gln>Glu] (Hb J-Paris-II , Hb Uppsala)	Hb Mexico	HBA1:c.163C>G \| HBA2:c.163C>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34055, 37859
560	CD 54 CAG>CGG [Gln>Arg] (Hb Hikoshima)	Hb Shimonoseki	HBA1:c.164A>G \| HBA2:c.164A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34056, 37860
2472	CD 54 CAG>CCG [Gln>Pro]	Hb Dhaka	HBA1:c.164A>C \| HBA2:c.164A>C	α1 or α2	Causative	α-chain variant	NG_000006.1	34056, 37860
2397	CD 54 CAG>CAC or CAT [Gln>His]	Hb Princes Risborough	HBA1:p.[Gln55His] \| HBA2:p.[Gln55His]	α1 or α2	Causative	α-chain variant	NG_000006.1	34057, 37861
564	CD 56 AAG>GAG [Lys>Glu]	Hb Shaare Zedek	HBA1:c.169A>G \| HBA2:c.169A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34061, 37865
565	CD 56 AAG>AGG [Lys>Arg]	Hb Port Huron	HBA1:c.170A>G \| HBA2:c.170A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34062, 37866
566	CD 56 AAG>ACG [Lys>Thr]	Hb Thailand	HBA1:c.170A>C \| HBA2:c.170A>C	α1 or α2	Causative	α-chain variant	NG_000006.1	34062, 37866
567	CD 56 AAG>AAT or AAC [Lys>Asn]	Hb Belliard	HBA1:c.171G>C \| HBA1:c.171G>T \| HBA2:c.171G>C \| HBA2:c.171G>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34063, 37867
568	CD 57 GGC>CGC [Gly>Arg]	Hb L-Persian Gulf	HBA1:c.172G>C \| HBA2:c.172G>C	α1 or α2	Causative	α-chain variant	NG_000006.1	34064, 37868
569	CD 57 GGC>GAC [Gly>Asp] (Hb Kagoshima , Hb Nishik-I , Hb Nishik-II , Hb Nishik-III)	Hb J-Norfolk	HBA1:c.173G>A \| HBA2:c.173G>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34065, 37869
570	CD 58 CAC>TAC [His>Tyr] (Hb M-Gothenburg , Hb M-Kiskunhalas , Hb M-Norin , Hb M-Osaka)	Hb M-Boston	HBA1:c.175C>T \| HBA2:c.175C>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34067, 37871
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
577	CD 60 AAG>GAG [Lys>Glu]	Hb Dagestan	HBA1:c.181A>G \| HBA2:c.181A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34073, 37877
578	CD 60 AAG>AAC or AAT [Lys>Asn]	Hb Zambia	HBA1:c.183G>C \| HBA1:c.183G>T \| HBA2:c.183G>C \| HBA2:c.183G>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34075, 37879
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
582	CD AAG>AAC or AAT [Lys>Asn]	Hb J-Buda	HBA1:c.186G>C \| HBA1:c.186G>T \| HBA2:c.186G>C \| HBA2:c.186G>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34078, 37882
585	CD 63 GCC>GAC [Ala>Asp] (Hb J-Pontoise)	Hb Pontoise	HBA1:c.191C>A \| HBA2:c.191C>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34083, 37887
586	CD 64 GAC>TAC [Asp>Tyr]	Hb Persepolis	HBA1:c.193G>T \| HBA2:c.193G>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34085, 37889
589	CD 64 GAC>GGC [Asp>Gly]	Hb Guangzhou-Hangzhou	HBA1:c.194A>G \| HBA2:c.194A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34086, 37890
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
593	CD 68 AAC>GAC [Asn>Asp]	Hb Ube-2	HBA1:c.205A>G \| HBA2:c.205A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34097, 37901
2318	CD 68 AAC>TAC [Asn>Tyr]	Hb Chelmsford	HBA1:c.205A>T \| HBA2:c.205A>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34097, 37901
596	CD 68 AAC>AAG or AAA [Asn>Lys] (Hb D-Baltimore , Hb D-St. Louis , Hb D-Washington , Hb G-Azakouli , Hb G-Bristol , Hb G-Knoxville , Hb Stanleyville-I)	Hb G-Philadelphia	HBA1:c.207C>A \| HBA1:c.207C>G \| HBA2:c.207C>A \| HBA2:c.207C>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34099, 37903
2312	CD 71 GCG>ACG [Ala>Thr]	Hb Hatfield	HBA1:c.214G>A \| HBA2:c.214G>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34106, 37910
600	CD 71 GCG>GAG [Ala>Glu]	Hb J-Habana	HBA1:c.215C>A \| HBA2:c.215C>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34107, 37911
601	CD 71 GCG>GTG [Ala>Val]	Hb Ozieri	HBA1:c.215C>T \| HBA2:c.215C>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34107, 37911
603	CD 72 CAC>TAC [His>Tyr] (Hb Tanashi)	Hb Fuchu-I	HBA1:c.217C>T \| HBA2:c.217C>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34109, 37913
604	CD 72 CAC>CGC [His>Arg]	Hb Daneshgah-Tehran	HBA1:c.218A>G \| HBA2:c.218A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34110, 37914
606	CD 74 GAC>AAC [Asp>Asn]	Hb G-Pest	HBA1:c.223G>A \| HBA2:c.223G>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34115, 37919
610	CD 74 GAC>GCC [Asp>Ala]	Hb Lille	HBA1:c.224A>C \| HBA2:c.224A>C	α1 or α2	Causative	α-chain variant	NG_000006.1	34116, 37920
612	CD 75 GAC>AAC [Asp>Asn]	Hb Matsue-Oki	HBA1:c.226G>A \| HBA2:c.226G>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34118, 37922
613	CD 75 GAC>CAC [Asp>His]	Hb Q-Iran	HBA1:c.226G>C \| HBA2:c.226G>C	α1 or α2	Causative	α-chain variant	NG_000006.1	34118, 37922
616	CD 75 GAC>GGC [Asp>Gly]	Hb Mizushi	HBA1:c.227A>G \| HBA2:c.227A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34119, 37923
617	CD 76 ATG>AGG [Met>Arg]	Hb Walpole	HBA1:c.230T>G \| HBA2:c.230T>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34122, 37926
618	CD 76 ATG>ACG [Met>Thr]	Hb Aztec	HBA1:c.230T>C \| HBA2:c.230T>C	α1 or α2	Causative	α-chain variant	NG_000006.1	34122, 37926
619	CD 76 ATG>AAG [Met>Lys]	Hb Noko	HBA1:c.230T>A \| HBA2:c.230T>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34122, 37926
623	CD 77 CCC>CGC [Pro>Arg]	Hb GuiZhou	HBA1:c.233C>G \| HBA2:c.233C>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34125, 37929
624	CD 78 AAC>GAC [Asn>Asp]	Hb J-Singa	HBA1:c.235A>G \| HBA2:c.235A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34127, 37931
627	CD 79 GCG>ACG [Ala>Thr]	Hb Mantes-La-Jolie	HBA1:c.238G>A \| HBA2:c.238G>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34130, 37934
630	CD 80 CTG>CGG [Leu>Arg]	Hb Ann Arbor	HBA1:c.242T>G \| HBA2:c.242T>G	α1 or α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34134, 37938
632	CD 81 TCC>TGC [Ser>Cys]	Hb Nigeria	HBA1:c.245C>G \| HBA2:c.245C>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34137, 37941
634	CD 82 GCC>GAC [Ala>Asp]	Hb Garden State	HBA1:c.248C>A \| HBA2:c.248C>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34140, 37944
636	CD 84 AGC>GGC [Ser>Gly]	Hb Wembley	HBA1:c.253A>G \| HBA2:c.253A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34145, 37949
637	CD 84 AGC>AGG or CGC or AGA [Ser>Arg]	Hb Etobicoke	HBA1:c.253A>C \| HBA1:c.255C>A \| HBA1:c.255C>G \| HBA2:c.253A>C \| HBA2:c.255C>A \| HBA2:c.255C>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34147, 37949
639	CD 85 GAC>AAC [Asp>Asn]	Hb G-Norfolk	HBA1:c.256G>A \| HBA2:c.256G>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34148, 37952
640	CD 85 GAC>TAC [Asp>Tyr]	Hb Atago	HBA1:c.256G>T \| HBA2:c.256G>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34148, 37952
2398	CD 85 GAC>GAA or GAG [Asp>Glu]	Hb Aylesbury	HBA1:c.258C>A \| HBA1:c.258C>G \| HBA2:c.258C>A \| HBA2:c.258C>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34150, 37954
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
644	CD 87 +9 bp [+Ser-Asp-Leu]	Hb Neuilly-sur-Marne	HBA1:c.253_261dup \| HBA2:c.253_261dup	α1 or α2	Causative	α-chain variant	NG_000006.1	34154, 37949
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
649	CD 87 CAC>CCC [His>Pro]	Hb Grifton	HBA1:c.263A>C \| HBA2:c.263A>C	α1 or α2	Causative	α-chain variant	NG_000006.1	34155, 37959
650	CD 88 GCG>TCG [Ala>Ser]	Hb Loire	HBA1:c.265G>T \| HBA2:c.265G>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34157, 37961
651	CD 88 GCG>GAG [Ala>Glu]	Hb Wroclaw	HBA1:c.266C>A \| HBA2:c.266C>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34158, 37962
652	CD 88 GCG>GTG [Ala>Val]	Hb Columbia Missouri	HBA1:c.266C>T \| HBA2:c.266C>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34158, 37962
653	CD 88 GCG>GGG [Ala>Gly]	Hb Valparaiso	HBA1:c.266C>G \| HBA2:c.266C>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34158, 37962
654	CD 89 CAC>TAC [His>Tyr]	Hb Villeurbanne	HBA1:c.268C>T \| HBA2:c.268C>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34160, 37964
655	CD 89 CAC>CCC [His>Pro]	Hb Tokyo	HBA1:c.269A>C \| HBA2:c.269A>C	α1 or α2	Causative	α-chain variant	NG_000006.1	34161, 37965
656	CD 89 CAC>CGC [His>Arg]	Hb Tamano	HBA1:c.269A>G \| HBA2:c.269A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34161, 37965
657	CD 89 CAC>CTC [His>Leu]	Hb Luton	HBA1:c.269A>T \| HBA2:c.269A>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34161, 37965
659	CD 90 AAG>GAG [Lys>Glu]	Hb Sudbury	HBA1:c.271A>G \| HBA2:c.271A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34163, 37967
660	CD 90 AAG>ATG [Lys>Met] (Hb Munakata)	Hb Handa	HBA1:c.272A>T \| HBA2:c.272A>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34164, 37968
664	CD 90 AAG>AAT (α2) or AAG>AAC (α1) [Lys>Asn] (Hb Tagawa-I)	Hb J-Broussais	HBA1:c.273G>C \| HBA2:c.273G>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34165, 37969
666	CD 91 CTT>CCT [Leu>Pro]	Hb Port Phillip	HBA1:c.275T>C \| HBA2:c.275T>C	α1 or α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34167, 37971
667	CD 92 CGG>TGG [Arg>Trp]	Hb Cemenelum	HBA1:c.277C>T \| HBA2:c.277C>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34169, 37973
668	CD 92 CGG>CAG [Arg>Gln]	Hb J-Cape Town	HBA1:c.278G>A \| HBA2:c.278G>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34170, 37973
669	CD 92 CGG>CTG [Arg>Leu]	Hb Chesapeake	HBA1:c.278G>T \| HBA2:c.278G>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34170, 37974
677	CD 94 GAC>GCC [Asp>Ala]	Hb Bassett	HBA1:c.284A>C \| HBA2:c.284A>C	α1 or α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34176, 37980
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
680	CD 95 CCG>GCG [Pro>Ala]	Hb Denmark Hill	HBA1:c.286C>G \| HBA2:c.286C>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34178, 37982
681	CD 95 CCG>ACG [Pro>Thr]	Hb Godavari	HBA1:c.286C>A \| HBA2:c.286C>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34178, 37982
682	CD 95 CCG>TCG [Pro>Ser]	Hb Rampa	HBA1:c.286C>T \| HBA2:c.286C>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34178, 37982
689	CD 98 TTC>TAC [Phe>Tyr]	Hb Mill Hill	HBA1:c.296T>A \| HBA2:c.296T>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34188, 37992
690	CD 99 AAG>GAG [Lys>Glu] (Hb Turriff-I)	Hb Turriff	HBA1:c.298A>G \| HBA2:c.298A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34190, 37994
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
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
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
2315	CD 110 GCC>GTC [Ala>Val] (Hb Montluel)	Hb White Rose	HBA1:c.332C>T \| HBA2:c.332C>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34366, 38177
706	CD 111 GCC>ACC [Ala>Thr]	Hb Mosella	HBA1:c.334G>A \| HBA2:c.334G>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34368, 38179
708	CD 112 CAC>GAC [His>Asp]	Hb Hopkins-II	HBA1:c.337C>G \| HBA2:c.337C>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34371, 38182
721	CD 116-117 +15 bp [+His-Leu-Pro-Ala-Glu]	Hb Zaïre	HBA1:c.337_351dup \| HBA2:c.337_351dup	α1 or α2	Causative	α-chain variant	NG_000006.1	34371, 38182
709	CD 112 CAC>CGC [His>Arg] (Hb Serbia)	Hb Strumica	HBA1:c.338A>G \| HBA2:c.338A>G	α1 or α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34372, 38183
712	CD 113 CTC>CAC [Leu>His]	Hb Twin Peaks	HBA1:c.341T>A \| HBA2:c.341T>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34375, 38186
713	CD 114 CCC>TCC [Pro>Ser]	Hb Melusine	HBA1:c.343C>T \| HBA2:c.343C>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34377, 38188
2316	CD 114 CCC>GCC [Pro>Ala]	Hb Broomhill	HBA1:c.343C>G \| HBA2:c.343C>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34377, 38188
715	CD 114 CCC>CTC [Pro>Leu]	Hb Nouakchott	HBA1:c.344C>T \| HBA2:c.344C>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34378, 38189
716	CD 114 CCC>CGC [Pro>Arg]	Hb Chiapas	HBA1:c.344C>G \| HBA2:c.344C>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34378, 38189
717	CD 115 GCC>GAC [Ala>Asp]	Hb J-Tongariki	HBA1:c.347C>A \| HBA2:c.347C>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34381, 38192
718	CD 116 GAG>CAG [Glu>Gln]	Hb Oleander	HBA1:c.349G>C \| HBA2:c.349G>C	α1 or α2	Causative	α-chain variant	NG_000006.1	34383, 38194
723	CD 118-119 +9 bp [+Glu-Phe-Thr] (Hb Dakar)	Hb Grady	HBA1:c.349_357dup \| HBA2:c.349_357dup	α1 or α2	Causative	α-chain variant	NG_000006.1	34383, 38194
719	CD 116 GAG>GCG [Glu>Ala]	Hb Ube-4	HBA1:c.350A>C \| HBA2:c.350A>C	α1 or α2	Causative	α-chain variant	NG_000006.1	34384, 38195
728	CD 121 GTG>ATG [Val>Met]	Hb Owari	HBA1:c.364G>A \| HBA2:c.364G>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34398, 38209
2444	CD 124 TCC>TTC [Ser>Phe]	Hb Batley	HBA1:c.374C>T \| HBA2:c.374C>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34408, 38219
739	CD 126 GAC>TΑC [Asp>Tyr]	Hb Montefiore	HBA1:c.379G>T \| HBA2:c.379G>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34413, 38224
740	CD 126 GAC>AAC [Asp>Asn]	Hb Tarrant	HBA1:c.379G>A \| HBA2:c.379G>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34413, 38224
741	CD 126 GAC>GGC [Asp>Gly]	Hb West One	HBA1:c.380A>G \| HBA2:c.380A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34414, 38225
742	CD 126 GAC>GGC [Asp>Val]	Hb Fukutomi	HBA1:c.380A>T \| HBA2:c.380A>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34414, 38225
744	CD 127 AAG>ACG [Lys>Thr]	Hb St. Claude	HBA1:c.383A>C \| HBA2:c.383A>C	α1 or α2	Causative	α-chain variant	NG_000006.1	34417, 38228
745	CD 127 AAG>AAT or AAC [Lys>Asn]	Hb Jackson	HBA1:c.384G>C \| HBA1:c.384G>T \| HBA2:c.384G>C \| HBA2:c.384G>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34418, 38229
415	CD 132 GTG>GGG [Val>Gly]	Hb Caen	HBA1:c.398T>G or HBA2:c.398T>G	α1 or α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34432
757	CD 133 AGC>CGC or AGA [Ser>Arg] (Hb Footscray)	Hb Val de Marne	HBA2:p.Ser134Arg \| HBA1:p.Ser134Arg	α1 or α2	Causative	α-chain variant	NG_000006.1	34434, 34436, 38245, 38247
756	CD 133 AGC>AAC [Ser>Asn]	Hb Saclay	HBA1:c.401G>A \| HBA2:c.401G>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34435, 38246
759	CD 134 ACC>AGC or TCC [Thr>Ser]	Hb Kenton	HBA1:c.403A>T \| HBA1:c.404C>G \| HBA2:c.403A>T \| HBA2:c.404C>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34437, 34438, 38248, 38249
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
768	CD 138 TCC>CCC [Ser>Pro]	Hb Attleboro	HBA1:c.415T>C \| HBA2:c.415T>C	α1 or α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34449, 38260
773	CD 139 AAA>ACA [Lys>Thr]	Hb Tokoname	HBA1:c.419A>C \| HBA2:c.419A>C	α1 or α2	Causative	α-chain variant	NG_000006.1	34453, 38264
775	CD 139 -A	Hb Wayne	HBA1:c.420delA \| HBA2:c.420delA	α1 or α2	Causative	α-chain variant	NG_000006.1	34454, 38265
776	CD 140 TAC>CAC [Tyr>His]	Hb Ethiopia	HBA1:c.421T>C \| HBA2:c.421T>C	α1 or α2	Causative	α-chain variant	NG_000006.1	34455, 38266
778	CD 141 CGT>CAT [Arg>Ser]	Hb J-Cubujuqui	HBA1:c.424C>A \| HBA2:c.424C>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34458, 38269
779	CD 141 CGT>GGT [Arg>Gly]	Hb J-Camagüey	HBA1:c.424C>G \| HBA2:c.424C>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34458, 38269
780	CD 141 CTG>TGT [Arg>Cys]	Hb Nunobiki	HBA1:c.424C>T \| HBA2:c.424C>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34458, 38269
781	CD 141 CGT>CCT [Arg>Pro]	Hb Singapore	HBA1:c.425G>C \| HBA2:c.425G>C	α1 or α2	Causative	α-chain variant	NG_000006.1	34459, 38270
782	CD 141 CGT>CTT [Arg>Leu]	Hb Legnano	HBA1:c.425G>T \| HBA2:c.425G>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34459, 38270
783	CD 141 CGT>CAT [Arg>His]	Hb Suresnes	HBA1:c.425G>A \| HBA2:c.425G>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34459, 38270
509	CD 34 CTG>CGG [Leu>Arg] (Hb Ogi)	Hb Queens	HBA1:c.104T>G \| HBA2:c.104T>G	α1 or α2	Causative	α-chain variant	NG_000006.1	37800
763	CD 135 GTG>ATG [Val>Glu]	Hb Pavie	HBA1:c.407T>A \| HBA2:c.407T>A	α1 or α2	Causative	α-chain variant	NG_000006.1	38252

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.