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
Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI.
Therefore, IthaGenes has no responsibility over any temporary unavailability of the service.
In such a case, please Refresh the page or retry at a later stage.
Otherwise, use this external link.
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. |
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.
IthaGenes was last updated on 2024-04-18 10:10:45