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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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IthaGenes was last updated on 2024-11-08 10:16:16