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Showing all Duplications (Show All):
IthaID | Common Name | Hb Name | HGVS Name | Genes | Functionality | Phenotype | Locus | Position |
---|---|---|---|---|---|---|---|---|
3265 | α-globin cluster triplication | N/A | NC_000016.10:g.(53322_113530)_(181203_206337)dup | α1, HS40, ζ, α2, HBM | Modifier | α-thalassaemia | NG_000006.1 | |
3076 | αααα391 | N/A | NC_000016.10:g.101440_492029dup | HS40, ζ, α2, α1, NPRL3 | Modifier | α-chain variant | NG_000006.1 | |
3939 | ~274 kb dup | N/A | N/A | HBM, NPRL3, α1, α2, ζ, HS40, AXIN1 | Modifier | N/A | NG_000006.1 | |
3070 | αααα282 (αααα222) | N/A | NC_000016.10:g.44054_44055ins[NC_000016.10:g.10001_232200] | NPRL3, HS40, ζ, α2, α1 | Modifier | α-chain variant | NG_000006.1 | |
3938 | 120.5 kb dup | N/A | NC_000016.10:g.98546_219042del | HBM, NPRL3, α1, α2, ζ, HS40 | Modifier | N/A | NG_000006.1 | |
3937 | 188.7 kb dup | N/A | NC_000016.10:g.62166_250991del | HBM, HS40, ζ, α2, α1, NPRL3 | Modifier | N/A | NG_000006.1 | |
2567 | BS duplication | N/A | NC_000016.10:g.(85585_100579)_ (360915_410354)dup | α1, HS40, ζ, α2 | Modifier | α-thalassaemia | NG_000006.1 | |
4014 | αααα(159) | N/A | NC_000016.10:g.(63142_63147)_(222524_222529)dup | HBM, NPRL3, α1, α2, ζ | Modifier | α-thalassaemia | NG_000006.1 | |
4010 | αααα(anti-3.7) | N/A | N/A | α1, α2 | Modifier | α-thalassaemia | NG_000006.1 | |
2561 | ααα(anti-3.7) (Triplicated α (anti-3.7)) | N/A | NG_000006.1:g.34247_38050dup | α2, α1 | Modifier | α-thalassaemia, Anaemia | NG_000006.1 | |
2568 | FD duplication | N/A | NC_000016.10:g.55826_(185840_187594)dup | HS40, ζ, α2, α1 | Modifier | α-thalassaemia | NG_000006.1 | |
2569 | ααα(anti-4.2) (Triplicated α (anti-4.2)) | N/A | NG_000006.1:g.(31957_31978)_(34525_34544)dup | α2 | Modifier | Anaemia | NG_000006.1 | |
2570 | Sardinian duplication | N/A | N/A | HS40, ζ, α2, α1 | Modifier | α-thalassaemia | NG_000006.1 | |
3112 | African II duplication | N/A | NC_000011.10:g.5268938_5268939ins4619102_(5180070_5183700)ins(5216190_5222040)_5268938 | pseudo β, β, δ, Gγ, Aγ, ε | Neutral | N/A | NG_000007.3 | |
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 |
3869 | >29.5 Kb duplication | N/A | NG_000007.3:g.(27675_41485)_(71150_72080)dup | β, Aγ, Gγ, δ, pseudo β | Causative | β-thalassaemia | NG_000007.3 | 41485 |
3596 | Gγ duplication (-Gγ-Gγ-, HBG2 duplication) | N/A | NG_000007.3:g.(41526_42954)_(48036_49186)del | Gγ | Neutral | N/A | NG_000007.3 | 41526 |
2190 | CD 62-83 (+65 bp) | N/A | HBB:c.187_251dup | β | Causative | β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis | NG_000007.3 | 70911 |
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IthaGenes was last updated on 2024-04-24 11:43:02