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Showing all entries involving gene α3.7 hybrid (Show All):
IthaID | Common Name | Hb Name | HGVS Name | Genes | Functionality | Phenotype | Locus | Position |
---|---|---|---|---|---|---|---|---|
348 | -α3.7;CD 14 TGG>CGG | Hb Evanston | N/A | α3.7 hybrid, α1 or α2 | Causative | α-chain variant, α-thalassaemia, Haemolytic anaemia | NG_000006.1 | |
3948 | -α3.7αα (α triplication) | N/A | N/A | α2, α1, α3.7 hybrid | Modifier | α-thalassaemia | NG_000006.1 | |
410 | -α3.7;CD 125 CTG>CAG [Leu>Gln] | N/A | N/A | α3.7 hybrid, α1 or α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | |
400 | -α3.7;CD 109 CTG>CGG | Hb Suan Dok | N/A | α3.7 hybrid, α2 | Causative | α-chain variant, α-thalassaemia, Haemolytic anaemia | NG_000006.1 | |
3631 | -α3.7;CD 104 TGC>TAC | Hb Sallanches | N/A | α3.7 hybrid | Causative | α-thalassaemia | NG_000006.1 | |
3432 | Hkαα | N/A | N/A | α3.7 hybrid, α1, α2 | Neutral | N/A | NG_000006.1 | |
3396 | IVS I-113 C>A | Hb Beach Haven | HBA2:c.96-5C>A | α3.7 hybrid | Causative | Haemolytic anaemia | NG_000006.1 | |
346 | -α3.7;Init CD ACCATG>--CATG | N/A | NG_000006.1:g.[33773_33774del;34247_38050del] | α3.7 hybrid, α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33773, 34247 |
345 | -α3.7;Init CD ATG>GTG | N/A | NG_000006.1:g.[33776A>G;34247_38050del] | α3.7 hybrid, α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 33776, 34247 |
3915 | -α3.7;CD 23 GAG>AAG | Hb Chad | NG_000006.1:g.34247_38050del;33845G>A | α3.7 hybrid | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 33845 |
365 | -α3.7;CD 31 AGG>--G | N/A | NG_000006.1:g.[33869_33870del;34247_38050del] | α2, α3.7 hybrid | Causative | α-thalassaemia | NG_000006.1 | 33869, 34247 |
2511 | -α3.7;CD 50 CAC>CAG [His>Gln] (-α3.7kb Frankfurt) | Hb Frankfurt | NG_000006.1:g.34247_38050del;34045C>G | α3.7 hybrid | Causative | α-chain variant | NG_000006.1 | 34045 |
3973 | -α3.7;CD 68 AAC>AAR (-α3.7-Hb G-Philadelphia) | Hb G-Philadelphia | NG_000006.1:g.[34099C>R;34247_38050del] | α2, α3.7 hybrid | Causative | α-thalassaemia, α-chain variant | NG_000006.1 | 34099, 34247 |
300 | -α3.7 (type I) (-α3.7) | N/A | NG_000006.1:g.34247_38050del | α1, α3.7 hybrid, α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34247 |
2230 | -α3.7 (type II) | N/A | NG_000006.1:g.34478_38288del | α3.7 hybrid, α1, α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34478 |
2231 | -α3.7 (type III) | N/A | NG_000006.1:g.34570_38381del | α3.7 hybrid, α1, α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34570 |
2417 | CD 54 CAG>CGG [Gln>Arg] | Hb Shimonoseki | HBA1:c.164A>G | α3.7 hybrid, α1 | Causative | α-thalassaemia | NG_000006.1 | 37860 |
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IthaGenes was last updated on 2024-12-12 10:33:52