IthaGenes

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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
432	CD 1 GTG>GGG [Val>Gly]	Hb Antananarivo	HBA1:c.5T>G \| HBA2:c.5T>G	α1, 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
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
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
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
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
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
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
474	CD 19 (GCC>GAC) [Ala>Asp]	Hb J-Kurosh	HBA2:c.59C>A \| HBA1:c.59C>A	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
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
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
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
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
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
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
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
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
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
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
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
575	CD 59 GGC>GTC [Gly>Val]	Hb Tottori	HBA1:c.179G>T \| HBA2:c.179G>T	α1 or α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34071, 37875
580	CD 61 AAG>GAG [Lys>Glu]	Hb Miyagi	HBA1:c.184A>G \| HBA2:c.184A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34076, 37880
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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 \| HBA2:c.398T>G	α1 or α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34432
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
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
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
739	CD 126 GAC>TΑC [Asp>Tyr]	Hb Montefiore	HBA1:c.379G>T	α1, α1 or α2	Causative	α-chain variant	NG_000006.1	38224
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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