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Showing all entries involving gene OR51V1 (Show All):
IthaID | Common Name | Hb Name | HGVS Name | Genes | Functionality | Phenotype | Locus | Position |
---|---|---|---|---|---|---|---|---|
1547 | Dutch II | N/A | NC_000011.10:g.(?_4999945)_(5409809_5430440)del | OR51V1, OR51M1, OR51B5, pseudo β, β, δ, Aγ, βLCR, ε, Gγ | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
3340 | Brazilian (εγδβ)0 | N/A | NC_000011.10:g.(5106498_5151836)_(5324046_5390135)del | Aγ, ε, βLCR, Gγ, OR51B2, OR51V1, pseudo β, β, δ | Causative | εγδβ-thalassaemia | NG_000007.3 | 0 |
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 |
1504 | SE Asian, Thai (Aγδβ)0 (HPFH-6) | N/A | NC_000011.10:g.5172745_5252029 | δ, OR52Z1-OR51V1, OR51V1, pseudo β, β, Aγ | Causative | δβ-thalassaemia, Hb F levels | NG_000007.3 | 45587 |
2797 | rs7937649 | N/A | NC_000011.10:g.5201149G>A | OR51V1 | Modifier | Hb F levels | N/A |
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IthaGenes was last updated on 2024-12-03 11:48:06