IthaID: 1526
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Black (Aγδβ)0 | HGVS Name: | NC_000011.10:g.5212727_5248576del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: Deletion of 35850 nts from the Aγ gene to β gene
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | δβ-thalassaemia |
| Allele Phenotype: | Gγ(Aγδβ)0 |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | African |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint 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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In such a case, please Refresh the page or retry at a later stage.
Otherwise, use this external link.
Publications / Origin
- Henthorn PS, Smithies O, Nakatsuji T, Felice AE, Gardiner MB, Reese AL, Huisman TH, (A gamma delta beta)0-Thalassaemia in Blacks is due to a deletion of 34 kbp of DNA., British journal of haematology, 59(2), 343-56, 1985 PubMed
- Henthorn PS, Smithies O, Mager DL, Molecular analysis of deletions in the human beta-globin gene cluster: deletion junctions and locations of breakpoints., Genomics, 6(2), 226-37, 1990 PubMed
Created on 2010-06-16 16:13:17,
Last reviewed on 2021-03-16 15:56:28 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:17 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:28:32 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-04-09 09:48:51 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2014-04-09 09:52:45 | The IthaGenes Curation Team | Reviewed. |
| 5 | 2021-03-16 15:56:28 | The IthaGenes Curation Team | Reviewed. HGVS name corrected. |
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IthaGenes was last updated on 2024-11-20 13:24:07