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Showing all Fusions (Show All):
IthaID | Common Name | Hb Name | HGVS Name | Genes | Functionality | Phenotype | Locus | Position |
---|---|---|---|---|---|---|---|---|
2555 | α12 (HBA2 gene conversion) | N/A | N/A | α1, α2 | Causative | α-thalassaemia | NG_000006.1 | |
3433 | anti-Hkαα | N/A | N/A | α1, α2 | Neutral | N/A | NG_000006.1 | 0 |
3432 | Hkαα | N/A | N/A | α3.7 hybrid, α1, α2 | Neutral | N/A | NG_000006.1 | 0 |
301 | -α4.2 | N/A | NC_000016.10:g.169818_174075del | α2 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 30681 |
3973 | -α3.7;CD 68 AAC>AAA (-α3.7-Hb G-Philadelphia) | Hb G-Philadelphia | NG_000006.1:g.34247_38050del;34099C>A | α3.7 hybrid, α1, α2 | Causative | α-chain variant, α-thalassaemia | NG_000006.1 | 34099 |
300 | -α3.7 (type I) (-α3.7) | N/A | NG_000006.1:g.34247_38050del | α1, α2, α3.7 hybrid | 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 | α2, α3.7 hybrid, α1 | Causative | α-thalassaemia, Haemolytic anaemia | NG_000006.1 | 34570 |
1405 | (Hb Anti-Lepore P-Nilotic) | Hb P-Nilotic | NG_000007.3:g.63461_70874dup | β, δ | Causative | δ-chain variant | NG_000007.3 | |
1400 | Hb Lepore-Leiden | N/A | δ, β | Causative | δβ-thalassaemia | NG_000007.3 | ||
1404 | (Hb Anti-Lepore Hong Kong) | Hb Hong Kong | NG_000007.3:g.63160_70572dup | δ, β | Causative | δ-chain variant | NG_000007.3 | |
3390 | βδβ hybrid | Hb Palencia | N/A | β, δ | Causative | β-chain variant | NG_000007.3 | 0 |
2419 | Senegalese δ(0)β(+) | N/A | NG_000007.3:g.(63154_63209)_(70570_70625)del7417 | β, δ | Causative | δβ-thalassaemia, Haemolytic anaemia | NG_000007.3 | 0 |
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 |
1498 | (HPFH-7, Kenya) | Hb Kenya | NG_000007.3:g.48194_70985del | Aγ, pseudo β, β, δ | Causative | β-chain variant, Hb F levels | NG_000007.3 | 48194 |
3792 | N/A | Hb Lepore-Hong Kong | NG_000007.3:g.63154_70565del | β, δ | Causative | δβ-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia | NG_000007.3 | 63154 |
3307 | N/A | Hb Lepore Rochester-MN | NG_000007.3:g.[63191_70603dup;63291_70703del] | δ, β | Causative | δβ-thalassaemia | NG_000007.3 | 63191 |
1401 | (Hb Anti-Lepore Miyada) | Hb Miyada | NG_000007.3:g.63249_70661dup | β, δ | Causative | N/A | NG_000007.3 | 63249 |
1396 | (δβδ hybrid) | Hb Parchman | NG_000007.3:g.[63249_70661del;63571_70985dup] | β, δ | Causative | δ-chain variant | NG_000007.3 | 63249 |
1397 | Hb Lepore-Hollandia | NG_000007.3:g.63290_70702del | δ, β | Causative | δβ-thalassaemia | NG_000007.3 | 63290 | |
1398 | Hb Lepore-Baltimore | NG_000007.3:g.63564_70978del | β, δ | Causative | δβ-thalassaemia | NG_000007.3 | 63564 | |
1399 | Hb Lepore-Boston-Washington | NG_000007.3:g.63632_71046del | β, δ | Causative | δβ-thalassaemia | NG_000007.3 | 63632 | |
1403 | (Hb Anti-Lepore P-India) | Hb P-India | NG_000007.3:g.63632_71046dup | δ, β | Causative | δ-chain variant | 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 |
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IthaGenes was last updated on 2023-09-26 12:31:40