IthaID: 3062
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | -30 (-T) | HGVS Name: | HBB:c.-80delT |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | Unclear |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70515 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Promoter |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Promoter (Transcription) |
| Ethnic Origin: | Turkish |
| Molecular mechanism: | TATAA box (HBB) |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Ulasli M, Oztuzcu S, Kirkbes S, Bay A, Igci YZ, Bayraktar R, Igci M, Ergun S, Cakmak EA, Aytekin E, Arslan A, Novel Βeta (β)-Thalassemia Mutation in Turkish Children., Indian J Hematol Blood Transfus , 31(2), 218-22, 2015
Created on 2016-09-06 10:35:48,
Last reviewed on 2016-09-06 10:39:59 (Show full history)
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