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Showing all entries with δβ fusion phenotype (Show All):
IthaID | Common Name | Hb Name | HGVS Name | Genes | Functionality | Phenotype | Locus | Position |
---|---|---|---|---|---|---|---|---|
1405 | (Hb Anti-Lepore P-Nilotic) | Hb P-Nilotic | NG_000007.3:g.63461_70874dup | β, δ | Causative | δ-chain variant | NG_000007.3 | |
1404 | (Hb Anti-Lepore Hong Kong) | Hb Hong Kong | NG_000007.3:g.63160_70572dup | β, δ | Causative | δ-chain variant | NG_000007.3 | |
1400 | Hb Lepore-Leiden | N/A | δ, β | Causative | δβ-thalassaemia | NG_000007.3 | ||
2419 | Senegalese δ(0)β(+) | N/A | NG_000007.3:g.(63154_63209)_(70570_70625)del7417 | δ, β | Causative | δβ-thalassaemia, Haemolytic anaemia | NG_000007.3 | 0 |
3390 | βδβ hybrid | Hb Palencia | N/A | δ, β | Causative | β-chain variant | NG_000007.3 | 0 |
4096 | Hb Anti-Lepore Laibin | Hb Anti-Lepore Laibin | NG_000007.3:g.63100_70511dup | β, δ | Causative | δ-chain variant | NG_000007.3 | 63100 |
3792 | N/A | Hb Lepore-Hong Kong | NG_000007.3:g.63154_70565del | δ, β | Causative | δβ-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 63154 |
3964 | Hb Anti-Lepore Liuzhou | N/A | NG_000007.3:g.63154_70565dup | δ, β | Causative | δ-chain variant | NG_000007.3 | 63154 |
3307 | N/A | Hb Lepore Rochester-MN | NG_000007.3:g.[63191_70603dup;63291_70703del] | β, δ | Causative | δβ-thalassaemia | NG_000007.3 | 63191 |
1396 | (δβδ hybrid) | Hb Parchman | NG_000007.3:g.[63249_70661del;63571_70985dup] | β, δ | Causative | δ-chain variant | NG_000007.3 | 63249 |
1401 | (Hb Anti-Lepore Miyada) | Hb Miyada | NG_000007.3:g.63249_70661dup | β, δ | Causative | N/A | NG_000007.3 | 63249 |
1397 | Hb Lepore-Hollandia | NG_000007.3:g.63290_70702del | β, δ | Causative | δβ-thalassaemia | NG_000007.3 | 63290 | |
4109 | N/A | Hb Lepore-Quanzhou | NG_000007.3:g.63511_70924del | δ, β | Causative | δβ-thalassaemia | NG_000007.3 | 63511 |
1398 | Hb Lepore-Baltimore | NG_000007.3:g.63564_70978del | β, δ | Causative | δβ-thalassaemia | NG_000007.3 | 63564 | |
1403 | (Hb Anti-Lepore P-India) | Hb P-India | NG_000007.3:g.63632_71046dup | β, δ | Causative | δ-chain variant | NG_000007.3 | 63632 |
1399 | Hb Lepore-Boston-Washington | NG_000007.3:g.63632_71046del | β, δ | Causative | δβ-thalassaemia | NG_000007.3 | 63632 | |
1402 | (Hb Anti-Lepore P-Congo) | Hb P-Congo | NG_000007.3:g.64557_71923dup | β, δ | Causative | δ-chain variant | NG_000007.3 | 64557 |
2482 | CD 137 -GTG [-Val] (Hb Anti-Lepore Lincoln Park) | Hb Lincoln Park | HBD:c.412_414delGTG | δ | Causative | δ-chain variant, Haemolytic anaemia | NG_000007.3 | 64620 |
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IthaGenes was last updated on 2024-10-30 08:58:42