IthaID: 1538
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | English I (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.
Comments: The deletion includes genes ε and part of the Gγ but not the Aγ, δ, and β genes. The β gene remains intact but inactive.
External 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: | 100 kb |
| Deletion involves: | βLCR, ε, Gγ |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | English |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Curtin P, Pirastu M, Kan YW, Gobert-Jones JA, Stephens AD, Lehmann H, A distant gene deletion affects beta-globin gene function in an atypical gamma delta beta-thalassemia., The Journal of clinical investigation, 76(4), 1554-8, 1985
Created on 2010-06-16 16:13:17,
Last reviewed on 2013-10-15 17:28:32 (Show full history)
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