IthaID: 1543
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | English II | HGVS Name: | NC_000011.10:g.5262849_5360616del |
| 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 |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | N/A |
| Size: | 98 kb |
| Deletion involves: | βLCR, ε |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | British |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Rooks H, Bergounioux J, Game L, Close JP, Osborne C, Best S, Senior T, Height S, Thompson R, Hadzic N, Fraser P, Bolton-Maggs P, Thein SL, Heterogeneity of the epsilon gamma delta beta-thalassaemias: characterization of three novel English deletions., British journal of haematology, 128(5), 722-9, 2005
Created on 2010-06-16 16:13:17,
Last reviewed on 2013-10-15 17:28:32 (Show full history)
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