IthaID: 3939
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | ~274 kb dup | HGVS Name: | N/A |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: The duplication includes the entire α-globin locus. Breakpoints cannot determine due to large repetitive sequences.
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: | Greek Cypriot |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
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 15:40:30,
Last reviewed on 2022-06-16 15:49:36 (Show full history)
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