IthaID: 2158
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Pakistani I | HGVS Name: | NC_000011.10:g.5194461_5700474delins[250inv] |
| 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: | Pakistan |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Rooks H, Clark B, Best S, Rushton P, Oakley M, Thein OS, Cuthbert AC, Britland A, Ruf A, Thein SL, A novel 506kb deletion causing εγδβ thalassemia., Blood Cells Mol. Dis. , 49(3), 121-7, 2012
Created on 2013-09-28 19:31:19,
Last reviewed on 2013-10-15 17:00:14 (Show full history)
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