IthaID: 2125
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Afghan | HGVS Name: | NG_000007:g.70067_70976del |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: | 909 bp deletion |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β0 |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70067 |
| Size: | 909 bp |
| Deletion involves: | β |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Afghan |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Gallienne AE, Iberson NM, Dréau HM, Jackson H, Bignell PA, Old JM, Schuh A, Henderson SJ, Characterization of a novel deletion causing beta-thalassemia major in an Afghan family., Hemoglobin , 34(1), 110-4, 2010
Created on 2013-09-24 10:38:50,
Last reviewed on 2020-07-09 14:37:25 (Show full history)
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