IthaID: 2167
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Asian Indian (εγδβ)0 | HGVS Name: | N/A |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | εγδβ-thalassaemia |
| Allele Phenotype: | (εGγAγδβ)0 |
| Associated Phenotypes: | N/A |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Asian Indian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Gallienne AE, Dréau HM, McCarthy J, Timbs AT, Hampson JM, Schuh A, Old JM, Henderson SJ, Multiplex ligation-dependent probe amplification identification of 17 different beta-globin gene deletions (including four novel mutations) in the UK population., Hemoglobin , 33(6), 406-16, 2009
Created on 2013-09-30 11:52:44,
Last reviewed on 2013-10-15 17:00:14 (Show full history)
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