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
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
- 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 PubMed
Created on 2017-12-11 18:18:39,
Last reviewed on 2021-07-14 13:28:28 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2017-12-11 18:18:39 | The IthaGenes Curation Team | Created |
| 2 | 2021-04-07 09:01:28 | The IthaGenes Curation Team | Reviewed. HGVS name corrected. |
| 3 | 2021-05-18 12:34:34 | The IthaGenes Curation Team | Reviewed. Type of mutation corrected. |
| 4 | 2021-07-14 13:28:28 | The IthaGenes Curation Team | Reviewed. Gene added. |
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IthaGenes was last updated on 2024-12-03 11:48:06