IthaID: 3937
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 188.7 kb dup | HGVS Name: | NC_000016.10:g.62166_250991del |
Also known as:
Comments: The duplication includes the entire α-globin locus.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Associated Phenotypes: | N/A |
Other details
| Type of Mutation: | Duplication |
|---|---|
| Ethnic Origin: | Chinese/Anglo-Saxon English |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Clark B, Shooter C, Smith F, Brawand D, Steedman L, Oakley M, Rushton P, Rooks H, Wang X, Drousiotou A, Kyrri A, Hadjigavriel M, Will A, Fisher C, Higgs DR, Phylipsen M, Harteveld C, Kleanthous M, Thein SL, Beta thalassaemia intermedia due to co-inheritance of three unique alpha globin cluster duplications characterised by next generation sequencing analysis., Br J Haematol, 180(1), 160-164, 2018
Created on 2022-06-16 15:33:56,
Last reviewed on 2022-06-16 15:54:19 (Show full history)
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