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
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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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 PubMed
Created on 2015-12-07 11:15:38,
Last reviewed on 2021-12-01 08:34:41 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2015-12-07 11:15:38 | The IthaGenes Curation Team | Created |
| 2 | 2021-12-01 08:34:41 | The IthaGenes Curation Team | Reviewed. Functionality corrected. |
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IthaGenes was last updated on 2024-10-29 15:59:14