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: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: Deletion of 35850 nts from the Aγ gene to β gene
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
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
- 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
Created on 2010-06-16 16:13:17,
Last reviewed on 2021-03-16 15:56:28 (Show full history)
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