IthaID: 2567
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | BS duplication | HGVS Name: | NC_000016.10:g.(85585_100579)_ (360915_410354)dup |
Also known as:
Comments: This duplication was found spanning a region of approximately 260 kb starting 75 kb 5′ of the α2-globin gene to 185 kb downstream. This duplication defect increases the number of the α-globin genes from 4 to 6 in this patient, explaining the intermediate β-thalassemia status.
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: | N/A |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Harteveld CL, Refaldi C, Cassinerio E, Cappellini MD, Giordano PC, Segmental duplications involving the alpha-globin gene cluster are causing beta-thalassemia intermedia phenotypes in beta-thalassemia heterozygous patients., Blood Cells Mol. Dis. , 40(3), 312-6, 2008
Created on 2015-12-07 11:15:38,
Last reviewed on 2021-12-01 08:34:41 (Show full history)
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