IthaGenes

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Showing all entries involving gene Aγ (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
1525	Belgian (Aγδβ)0	N/A	NC_000011.10:g.(5200077_5215844)_(5249806_5251160)del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3
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
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
3955	Siriraj I Gγ(Aγδβ)0 (~118 kb del)	N/A	N/A	Aγ, δ, β	Causative	δβ-thalassaemia	NG_000007.3
1519	Indian (Aγδβ)0 (inv) (Asian-Indian Inv/Del Gγ(Aγδβ)0)	N/A	N/A	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	0
1521	Cantonese (Aγδβ)0	N/A	N/A	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	0
1522	Malaysian-1 (Aγδβ)0	N/A	N/A	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	0
1528	Yunnanese (Aγδβ)0	N/A	NC_000011.10:g.5182845_5249973del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	0
1531	Canadian (Aγδβ)0	N/A	NC_000011.10:g.5196589_5251715delinsTA	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	0
1532	Leiden 69.5	N/A	NC_000011.10:g.(5167906_5178684)_(5248184_5251232)del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	0
1533	49.3 kb Gγ(Aγδβ)0 Asian del	N/A	NC_000011.10:g.5201244_5250542del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	0
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
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
2498	86.7 kb (Αγδβ)0 Indian del (HPFH-10)	N/A	NC_000011.10:g.5164124_5250830delinsTG	Aγ, δ, β, pseudo β	Causative	HPFH, Hb F levels	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
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
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
3959	HBG1-HBG2 deletion	N/A	NG_000007.3:g.43348_48271del	Aγ, Gγ	Neutral	N/A	NG_000007.3	43348
3835	78.9 kb Gγ(Aγδβ)0 del	N/A	NC_000011.10:g.5169895_5248821delins5216274_5216309	Aγ, δ, β, pseudo β, OR52Z1-OR51V1	Causative	δβ-thalassaemia	NG_000007.3	43875
1524	Turkish (Aγδβ)0	N/A	NG_000007.3:g.45410_81665del36256	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	45410
1504	SE Asian, Thai (Aγδβ)0 (HPFH-6)	N/A	NC_000011.10:g.5172745_5252029	Aγ, δ, β, pseudo β, OR51V1, OR52Z1-OR51V1	Causative	δβ-thalassaemia, Hb F levels	NG_000007.3	45587
1520	German (Aγδβ)0	N/A	NC_000011.10:g.(5197976_ 5198976)_(5251297_5251694)del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	45922
3812	rs2855036	N/A	NG_000007.3:g.46164G>A	Aγ	Modifier	Severity	NG_000007.3	46164
2801	rs2855038	N/A	NG_000007.3:g.46692A>G	Aγ	Modifier	Hb F levels, Severity	NG_000007.3	46692
3104	rs2855039	N/A	NG_000007.3:g.47175G>A	Aγ	Modifier	Hb F levels	NG_000007.3	47175
1523	Malaysian-2 (Aγδβ)0	N/A	NC_000011.10:g.(5207467_5208467)_(5250061_5250240)del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	47376
3920	-368 C>A	N/A	HBG1:c.-420C>A	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47391
3887	-365 G>C	N/A	HBG1:c.-417G>C	Aγ	Neutral	N/A	NG_000007.3	47394
4074	-352 A>G	N/A	HBG1:c.-404A>G	Aγ	Neutral	N/A	NG_000007.3	47407
3865	-219 (+AGCA)	N/A	HBG1:c.-272_-275dup	Aγ	Causative	HPFH	NG_000007.3	47537
1565	-211 C>T (Venezuelan non-deletional HPFH)	N/A	HBG1:c.-264C>T	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47548
1566	-202 C>T (Black non-deletional HPFH)	N/A	HBG1:c.-255C>T	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47557
1567	-201 C>T (Greek non-deletional HPFH)	N/A	HBG1:c.-254C>T	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47558
1568	-198 T>C (British non-deletional HPFH)	N/A	HBG1:c.-251T>C	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47561
2301	-197 C>T	N/A	HBG1:c.-250C>T	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47562
1569	-196 C>T (Italian/Chinese non-deletional HPFH)	N/A	HBG1:c.-249C>T	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47563
1570	-195 C>G (Brazilian non-deletional HPFH)	N/A	HBG1:c.-248C>G	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47564
1571	-175 T>C (Black non-deletional HPFH)	N/A	HBG1:c.-228T>C	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47584
1572	-158 C>T (Cretan non-deletional HPFH)	N/A	HBG1:c.-211C>T	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47601
1573	-117 G>A (Greek/Italian/Black non-deletional HPFH)	N/A	HBG1:c.-170G>A	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47642
1574	-114 to -102 (13 bp deletion , Black non-deletional HPFH)	N/A	HBG1:c.-167_-155delCAATAGCCTTGAC	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47645
1575	-114 C>T (Georgian non-deletional HPFH)	N/A	HBG1:c.-167C>T	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47645
3025	-114 C>G (African-American/Hispanic non-deletional HPFH)	N/A	HBG1:c.-167C>G	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47645
2302	-113 A>G	N/A	HBG1:c.-166A>G	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47646
2945	rs368698783 (Aγ(+25 G>A))	N/A	NG_000007.3:g.47783G>A	Aγ	Modifier	Hb F levels	NG_000007.3	47783
1460	CD 2 CAT>CAG	Hb F-Macedonia-I	HBG1:c.9T>G	Aγ	Causative	γ-chain variant	NG_000007.3	47820
1461	CD 5 GAG>AAG	Hb F-Texas-I	HBG1:c.16G>A	Aγ	Causative	γ-chain variant	NG_000007.3	47827
1462	CD 6 GAG>CAG	Hb F-Pordenone	HBG1:c.19G>C	Aγ	Causative	γ-chain variant	NG_000007.3	47830
1463	CD 6 GAG>GGG	Hb F-Kotobuki	HBG1:c.20A>G	Aγ	Causative	γ-chain variant	NG_000007.3	47831
1464	CD 12 ACA>AGA	Hb F-Calluna	HBG1:c.38C>G	Aγ	Causative	γ-chain variant	NG_000007.3	47849
3320	CD 16 GGC>GAC [Gly>Asp]	Hb F-Chori-I	HBG1:c.50G>A	Aγ	Causative	γ-chain variant	NG_000007.3	47861
1465	CD 22 GAT>AAT [Asp>Asn]	Hb F-Beni Khirane	HBG1:c.67G>A	Aγ	Causative	γ-chain variant	NG_000007.3	47878
1466	CD 22 GAT>GGT	Hb F-Kuala Lumpur	HBG1:c.68A>G	Aγ	Causative	γ-chain variant	NG_000007.3	47879
1467	CD 23 (-GCT)	Hb F-Mauritius	HBG1:c.70_72del	Aγ	Causative	γ-chain variant	NG_000007.3	47881
1468	CD 25 GGA>CGA	Hb F-Xinjiang	HBG1:c.76G>C	Aγ	Causative	γ-chain variant	NG_000007.3	47887
3321	CD 29 GGA>GAA [Gly>Glu]	Hb F-Chori-II	HBG1:c.89G>A	Aγ	Causative	γ-chain variant	NG_000007.3	47900
1469	CD 36 CCA>CGA	Hb F-Pendergrass	HBG1:c.110C>G	Aγ	Causative	γ-chain variant	NG_000007.3	48043
1470	CD 37 TGG>GGG	Hb F-Cobb	HBG1:c.112T>G	Aγ	Causative	γ-chain variant	NG_000007.3	48045
1471	CD 39 CAG>CGG	Hb F-Bonaire-GA	HBG1:c.119A>G	Aγ	Causative	γ-chain variant	NG_000007.3	48052
1472	CD 40 AGG>AAG	Hb F-Woodstock	HBG1:c.122G>A	Aγ	Causative	γ-chain variant	NG_000007.3	48055
1473	CD 43 GAC>AAC	Hb F-Fukuyama	HBG1:c.130G>A	Aγ	Causative	γ-chain variant	NG_000007.3	48063
1474	CD 53 GCC>GAC	Hb F-Beech Island	HBG1:c.161C>A	Aγ	Causative	γ-chain variant	NG_000007.3	48094
1530	Italian (Aγδβ)0	N/A	NC_000011.10:g.5194458_5249516del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	48100
1475	CD 61 AAG>GAG	Hb F-Jamaica	HBG1:c.184A>G	Aγ	Causative	γ-chain variant	NG_000007.3	48117
3917	CD 67 GTG>ATG [Val>Met]	Hb Toms River	HBG1:c.202G>A	Aγ	Causative	γ-chain variant	NG_000007.3	48135
1476	CD 72 GGA>CGA	Hb F-Iwata	HBG1:c.217G>C	Aγ	Causative	γ-chain variant	NG_000007.3	48150
1477	CD 73 GAT>CAT	Hb F-Xin-Su	HBG1:c.220G>C	Aγ	Causative	γ-chain variant	NG_000007.3	48153
1478	CD 73 GAT>AAT	Hb F-Forest Park	HBG1:c.220G>A	Aγ	Causative	γ-chain variant	NG_000007.3	48153
1479	CD 75 ATA>ACA	Hb F-Sardinia (AgammaT)	HBG1:c.227T>C	Aγ	Causative	γ-chain variant	NG_000007.3	48160
1480	CD 79 GAT>AAT	Hb F-Dammam	HBG1:c.238G>A	Aγ	Causative	γ-chain variant	NG_000007.3	48171
1481	CD 80 GAT>AAT	Hb F-Yamaguchi	HBG1:c.241G>A	Aγ	Causative	γ-chain variant	NG_000007.3	48174
1482	CD 80 GAT>TAT [Asp>Tyr]	Hb F-Victoria Jubilee	HBG1:c.241G>T	Aγ	Causative	γ-chain variant	NG_000007.3	48174
1498	(HPFH-7, Kenya)	Hb Kenya	NG_000007.3:g.48194_70985del	Aγ, δ, β, pseudo β	Causative	β-chain variant, Hb F levels	NG_000007.3	48194
2415	CD 91 CTG>CGG [Leu>Arg]	Hb F-Moyen-Orient	HBG1:c.275T>G	Aγ	Causative	γ-chain variant	NG_000007.3	48208
1483	CD 97 CAT>CGT	Hb F-Dickinson	HBG1:c.293A>G	Aγ	Causative	γ-chain variant	NG_000007.3	48226
3158	rs11036455	N/A	NG_000007.3:g.48428T>C	Aγ	Modifier	Hb F levels	NG_000007.3	48428
1527	Chinese (Aγδβ)0	N/A	NC_000011.10:g.5169918_5248821del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	48795
3814	rs2187608	N/A	NG_000007.3:g.48915C>G	Aγ	Modifier	Severity	NG_000007.3	48915
1526	Black (Aγδβ)0	N/A	NC_000011.10:g.5212727_5248576del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia, Haemolytic anaemia	NG_000007.3	49040
3574	rs28440105	N/A	NG_000007.3:g.49047T>G \| NG_000007.3:g.49047T>A	Aγ	Neutral	N/A	NG_000007.3	49047
2556	CD 113 GTT>ATT [Val>Ile]	Hb F-Sykesville MD	HBG1:c.340G>A	Aγ	Causative	γ-chain variant	NG_000007.3	49153
1484	CD 119 GGC>AGC [Gly>Ser]	Hb F-Osilo	HBG1:c.358G>A	Aγ	Causative	γ-chain variant	NG_000007.3	49171
1485	CD 121 GAA>AAA [Glu>Lys] (Hb F-Siena)	Hb F-Hull	HBG1:c.364G>A	Aγ	Causative	γ-chain variant	NG_000007.3	49177
1487	CD 121 GAA>CAA	Hb F-Campinas	HBG1:c.364G>C	Aγ	Causative	γ-chain variant	NG_000007.3	49177
2396	CD 121 GAA>GTA [Glu>Val]	Hb F-Salamanque	HBG1:c.365A>T	Aγ	Causative	γ-chain variant	NG_000007.3	49178
2453	CD 125 GAG>GCG [Glu>Ala]	Hb F-Port Royal II	HBG1:c.377A>C	Aγ	Causative	γ-chain variant	NG_000007.3	49190
1488	CD 128 GCT>ACT	Hb F-Baskent	HBG1:c.385G>A	Aγ	Causative	γ-chain variant	NG_000007.3	49198
1489	CD 131 CAG>CAT [Gln>His]	Hb F-Oman	HBG1:c.396G>T	Aγ	Causative	γ-chain variant	NG_000007.3	49209
1490	CD 134 GTG>ATG	Hb F-Jiangsu	HBG1:c.403G>A	Aγ	Causative	γ-chain variant	NG_000007.3	49216
1491	CD 136 GCA>TCA	Hb F-Porto Torres	HBG1:c.409G>T	Aγ	Causative	γ-chain variant	NG_000007.3	49222
1492	CD 136 GCA>GGA	Hb F-Charlotte	HBG1:c.410C>G	Aγ	Causative	γ-chain variant	NG_000007.3	49223
3892	CD 139 AGT>AGG [Ser>Arg]	Hb F-Streeterville	HBG1:c.420T>G	Aγ	Causative	γ-chain variant	NG_000007.3	49233
3159	rs201642811	N/A	NG_000007.3:g.49274T>G	Aγ	Modifier	Hb F levels	NG_000007.3	49274
2800	rs916111	N/A	NG_000007.3:g.49503A>T	Aγ	Modifier	Hb F levels, Severity	NG_000007.3	49503
3103	rs10488676	N/A	NG_000007.3:g.50049C>T	Aγ	Modifier	Hb F levels	NG_000007.3	50049

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