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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 |
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IthaGenes was last updated on 2021-02-26 08:21:52