IthaGenes

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Showing all γ-chain variants (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
1406	CD 1 GGT>TGT	Hb F-Malaysia	HBG2:c.4G>T	Gγ	Causative	γ-chain variant	NG_000007.3	42891
2449	CD 1 GGT>AGT [Gly>Ser]	Hb F-Montchat	HBG2:c.4G>A	Gγ	Causative	γ-chain variant	NG_000007.3	42891
3319	CD 1 GGT>GAT [Gly>Asp]	Hb F-Hayward	HBG2:c.5G>A	Gγ	Causative	γ-chain variant	NG_000007.3	42892
1407	CD 5 GAG>GGG	Hb F-Meinohama	HBG2:c.17A>G	Gγ	Causative	γ-chain variant	NG_000007.3	42904
1409	CD 7 GAC>AAC	Hb F-Auckland	HBG2:c.22G>A	Gγ	Causative	γ-chain variant	NG_000007.3	42909
1410	CD 8 AAG>CAG or GAG	Hb F-Albaicin	HBG2:c.25A>C \| HBG2:c.25A>G	Gγ	Causative	γ-chain variant	NG_000007.3	42912
1412	CD 12 ACA>AGA [Thr>Arg]	Hb F-Heather	HBG2:c.38C>G	Gγ	Causative	γ-chain variant	NG_000007.3	42925
3804	CD 13 AGC>AGA [Ser>Arg]	Hb F-Millennium Park	HBG2:c.42C>A	Gγ	Causative	γ-chain variant	NG_000007.3	42929
1413	CD 15 TGG>CGG	Hb F-Catalonia	HBG2:c.46T>C	Gγ	Causative	γ-chain variant	NG_000007.3	42933
1414	CD 16 GGC>CGC	Hb F-Melbourne	HBG2:c.49G>C	Gγ	Causative	γ-chain variant	NG_000007.3	42936
1415	CD 17 AAG>AAC or AAT	Hb F-Clamart	HBG2:c.54G>C \| HBG2:c.54G>T	Gγ	Causative	γ-chain variant	NG_000007.3	42941
1416	CD 19 AAT>AAA or AAG	Hb F-Ouled Rabah	HBG2:c.60T>A \| HBG2:c.60T>G	Gγ	Causative	γ-chain variant	NG_000007.3	42947
1417	CD 20 GTG>GCG	Hb F-Bron	HBG2:c.62T>C	Gγ	Causative	γ-chain variant	NG_000007.3	42949
1418	CD 21 GAA>AAA	Hb F-Saskatoon	HBG2:c.64G>A	Gγ	Causative	γ-chain variant	NG_000007.3	42951
1419	CD 21 GAA>CAA	Hb F-Fuchu	HBG2:c.64G>C	Gγ	Causative	γ-chain variant	NG_000007.3	42951
4099	CD 22 GAT>CAT [Asp>His]	Hb F-Nancy	HBG2:c.67G>C	Gγ	Causative	γ-chain variant	NG_000007.3	42954
1420	CD 22 GAT>GTT	Hb F-Granada	HBG2:c.68A>T	Gγ	Causative	γ-chain variant	NG_000007.3	42955
1421	CD 22 GAT>GGT	Hb F-Urumqi	HBG2:c.68A>G	Gγ	Causative	γ-chain variant	NG_000007.3	42955
3566	CD 24 GGA>GAA [Gly>Glu]	Hb F-Wentzville	HBG2:c.74G>A	Gγ	Causative	γ-chain variant, Haemolytic anaemia	NG_000007.3	42961
1422	CD 25 GGA>GAA	Hb F-Cosenza	HBG2:c.77G>A	Gγ	Causative	γ-chain variant	NG_000007.3	42964
1423	CD 26 GAA>AAA	Hb F-Oakland	HBG2:c.79G>A	Gγ	Causative	γ-chain variant	NG_000007.3	42966
3322	CD 28 CTG>ATG [Leu>Met]	Hb F-M Viseu	HBG2:c.85C>A	Gγ	Causative	γ-chain variant	NG_000007.3	42972
1424	CD 34 GTC>ATC	Hb F-Tokyo	HBG2:c.103G>A	Gγ	Causative	γ-chain variant	NG_000007.3	43112
2428	CD 37 TGG>GGG [Trp>Gly]	Hb F-Cobb II	HBG2:c.112T>G	Gγ	Causative	γ-chain variant	NG_000007.3	43121
1425	CD 38 ACC>CCC	Hb F-Bonheiden	HBG2:c.115A>C	Gγ	Causative	γ-chain variant	NG_000007.3	43124
1426	CD 40 AGG>GGG	Hb F-Veleta	HBG2:c.121A>G	Gγ	Causative	γ-chain variant	NG_000007.3	43130
1427	CD 40 AGG>AAG	Hb F-Austell	HBG2:c.122G>A	Gγ	Causative	γ-chain variant	NG_000007.3	43131
2427	CD 41 TTC>CTC [Phe>Leu]	Hb F-Avellino	HBG2:c.124T>C	Gγ	Causative	γ-chain variant, Hb F levels	NG_000007.3	43133
1428	CD 41 TTC>TCC	Hb F-Cincinnati	HBG2:c.125T>C	Gγ	Causative	γ-chain variant	NG_000007.3	43134
1429	CD 44 AGC>CGC	Hb F-Lodz	HBG2:c.133A>C	Gγ	Causative	γ-chain variant	NG_000007.3	43142
3608	CD 50 (TCT>TGT);CD 75(ATA>ACA)	Hb F-Madrid	HBG2:c.[152C>G;227T>C]	Gγ	Causative	γ-chain variant	NG_000007.3	43161
1430	CD 55 ATG>AGG	Hb F-Kingston	HBG2:c.167T>G	Gγ	Causative	γ-chain variant	NG_000007.3	43176
1431	CD 59 AAA>CAA	Hb F-Sacromonte	HBG2:c.178A>C	Gγ	Causative	γ-chain variant	NG_000007.3	43187
1432	CD 59 AAA>GAA	Hb F-Emirates	HBG2:c.178A>G	Gγ	Causative	γ-chain variant	NG_000007.3	43187
2552	CD 59 AAA>AGA [Lys>Arg]	Hb F-Augusta GA	HBG2:c.179A>G	Gγ	Causative	γ-chain variant	NG_000007.3	43188
1433	CD 63 CAT>TAT	Hb F-M-Osaka	HBG2:c.190C>T	Gγ	Causative	γ-chain variant	NG_000007.3	43199
3369	CD 63 CAT>CTT [His>Leu]	Hb F-Circleville	HBG2:c.191A>T	Gγ	Causative	γ-chain variant	NG_000007.3	43200
2471	CD 64 GGC>GAC [Gly>Asp]	Hb F-Turritana	HBG2:c.194G>A	Gγ	Causative	γ-chain variant	NG_000007.3	43203
1434	CD 65 AAG>AAT or AAC	Hb F-Clarke	HBG2:c.198G>C \| HBG2:c.198G>T	Gγ	Causative	γ-chain variant	NG_000007.3	43207
1435	CD 66 AAG>CAG	Hb F-Brooklyn	HBG2:c.199A>C	Gγ	Causative	γ-chain variant	NG_000007.3	43208
1436	CD 66 AAG>AGG	Hb F-Shanghai	HBG2:c.200A>G	Gγ	Causative	γ-chain variant	NG_000007.3	43209
2435	CD 67 GTG>ATG [Val>Met] (Hb F-Heuried)	Hb Toms River	HBG2:c.202G>A	Gγ	Causative	γ-chain variant	NG_000007.3	43211
1437	CD 72 GGA>CGA	Hb F-Minoo	HBG2:c.217G>C	Gγ	Causative	γ-chain variant	NG_000007.3	43226
1438	CD 73 GAT>GCT	Hb F-Joanopolis	HBG2:c.221A>C	Gγ	Causative	γ-chain variant	NG_000007.3	43230
1439	CD 75 ATA>GTA	Hb F-Coigneres	HBG2:c.226A>G	Gγ	Causative	γ-chain variant	NG_000007.3	43235
1440	CD 75 ATA>ACA	Hb F-Lesvos	HBG2:c.227T>C	Gγ	Causative	γ-chain variant	NG_000007.3	43236
1441	CD 77 CAC>CGC	Hb F-Kennestone	HBG2:c.233A>G	Gγ	Causative	γ-chain variant	NG_000007.3	43242
1442	CD 79 GAT>CAT [Asp>His]	Hb F-Saint-Etienne	HBG2:c.238G>C	Gγ	Causative	γ-chain variant	NG_000007.3	43247
3803	CD 79 GAT>GGT [Asp>Gly]	Hb F-Northerly Island	HBG2:c.239A>G	Gγ	Causative	γ-chain variant	NG_000007.3	43248
1443	CD 80 GAT>AAT	Hb F-Marietta	HBG2:c.241G>A	Gγ	Causative	γ-chain variant	NG_000007.3	43250
1444	CD 80 GAT>TAT [Asp>Tyr]	Hb F-Paulinia	HBG2:c.241G>T	Gγ	Causative	γ-chain variant	NG_000007.3	43250
3389	CD 89 AGT>AAT [Ser>Asn]	Hb F-Careggi	HBG2:c.269G>A	Gγ	Causative	γ-chain variant	NG_000007.3	43278
1445	CD 92 CAC>TAC	Hb F-M-Fort Ripley	HBG2:c.277C>T	Gγ	Causative	γ-chain variant	NG_000007.3	43286
2395	CD 93 TGT>CGT [Cys>Arg]	Hb F-Monserrato-Sassari	HBG2:c.280T>C	Gγ	Causative	γ-chain variant	NG_000007.3	43289
1446	CD 94 GAC>AAC	Hb F-Columbus-GA	HBG2:c.283G>A	Gγ	Causative	γ-chain variant	NG_000007.3	43292
1447	CD 97 CAT>CGT [His>Arg]	Hb F-Lyon	HBG2:c.293A>G	Gγ	Causative	γ-chain variant	NG_000007.3	43302
1448	CD 101 GAG>CAG [Glu>Gln]	Hb F-Zheijang	HBG2:c.304G>C	Gγ	Causative	γ-chain variant	NG_000007.3	43313
1449	CD 101 GAG>AAG	Hb F-La Grange	HBG2:c.304G>A	Gγ	Causative	γ-chain variant	NG_000007.3	43313
1450	CD 102 AAC>ACC [Asn>Thr]	Hb F-Sarajevo	HBG2:c.308A>C	Gγ	Causative	γ-chain variant	NG_000007.3	43317
1451	CD 104 AAG>AAC	Hb F-Macedonia-II	HBG2:c.315G>C	Gγ	Causative	γ-chain variant	NG_000007.3	43324
2459	CD 105 CTC>CAC [Leu>His]	Hb F-Brugine/Feldkirch	HBG2:c.317T>A	Gγ	Causative	γ-chain variant	NG_000007.3	43326
1452	CD 108 AAT>AAA [Asn>Lys]	Hb F-Ube	HBG1:c.327T>A \| HBG2:c.327T>A	Aγ or Gγ	Causative	γ-chain variant	NG_000007.3	44222, 49140
1453	CD 117 CAT>CGT	Hb F-Malta-I	HBG2:c.353A>G	Gγ	Causative	γ-chain variant	NG_000007.3	44248
1454	CD 118 TTC>CTC	Hb F-Calabria	HBG2:c.355T>C	Gγ	Causative	γ-chain variant	NG_000007.3	44250
3891	CD 119 GGC>CGC [Gly>Arg]	Hb F-Pill Hill	HBG2:c.358G>C	Gγ	Causative	γ-chain variant	NG_000007.3	44253
1455	CD 120 AAA>CAA	Hb F-Caltech	HBG2:c.361A>C	Gγ	Causative	γ-chain variant	NG_000007.3	44256
1456	CD 121 GAA>AAA	Hb F-Carlton	HBG2:c.364G>A	Gγ	Causative	γ-chain variant	NG_000007.3	44259
1457	CD 125 GAG>GCG	Hb F-Port Royal	HBG2:c.377A>C	Gγ	Causative	γ-chain variant	NG_000007.3	44272
1458	CD 130 TGG>GGG	Hb F-Poole	HBG2:c.391T>G	Gγ	Causative	γ-chain variant	NG_000007.3	44286
2450	CD 136 GGA>GAA [Gly>Glu]	Hb F-Privas	HBG2:c.410G>A	Gγ	Causative	γ-chain variant	NG_000007.3	44305
3950	CD 140 GCC>GAC [Ala>Asp]	Hb F-Wyandotte	HBG2:c.422C>A	Gγ	Causative	γ-chain variant	NG_000007.3	44317
1459	CD 146 CAC>TAC	Hb F-Onoda	HBG2:c.439C>T	Gγ	Causative	γ-chain variant	NG_000007.3	44334
2394	CD 146 CAC>CGC [His>Arg]	Hb F-Istambul	HBG2:c.440A>G	Gγ	Causative	γ-chain variant	NG_000007.3	44335
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
1408	CD 6 GAG>AAG	Hb F-Texas-II	HBG1:c.19G>A \| HBG2:c.19G>A	Aγ or Gγ	Causative	γ-chain variant	NG_000007.3	47830
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
1411	CD 12 ACA>AAA [Thr>Lys]	Hb F-Alexandra	HBG1:c.38C>A \| HBG2:c.38C>A	Aγ or Gγ	Causative	γ-chain variant	NG_000007.3	47849
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
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
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
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

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