IthaID: 315
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --SA | HGVS Name: | NC_000016.10:g.159052_182788delins139752_139596 |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α0 |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 19464 |
| Size: | 23.601 kb |
| Deletion involves: | α2, α1 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Indian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Frequencies
Publications / Origin
- Vandenplas S, Higgs DR, Nicholls RD, Bester AJ, Mathew CG, Characterization of a new alpha zero thalassaemia defect in the South African population., British journal of haematology, 66(4), 539-42, 1987
- Shaji RV, Eunice SE, Baidya S, Srivastava A, Chandy M, Determination of the breakpoint and molecular diagnosis of a common alpha-thalassaemia-1 deletion in the Indian population., Br. J. Haematol. , 123(5), 942-7, 2003
Created on 2010-06-16 16:13:15,
Last reviewed on 2013-10-15 17:28:32 (Show full history)
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