IthaID: 3278
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 1517 bp deletion | HGVS Name: | HBB:c.-390_316-169delinsA |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion removes the β-globin promoter, 5' untranslated region (5'UTR), exons 1 and 2, and most of the IVS-II. The total length of the deletion is 1517 bp, with a single base insertion (+A) at the junction.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β0 |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70205 |
| Size: | 1.517 kb |
| Deletion involves: | β |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | European |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Waye JS, Hanna M, Hohenadel BA, Nakamura L, Walker L, Eng B, Characterization of Two Novel Deletions Involving the 5' Region of the β-Globin Gene., Hemoglobin , 2017
Created on 2017-12-11 18:18:39,
Last reviewed on 2021-07-14 13:28:28 (Show full history)
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