IthaID: 1539
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Mexican (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
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | εγδβ-thalassaemia |
| Allele Phenotype: | (εGγAγδβ)0 |
| Associated Phenotypes: | N/A |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Mexican-American |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Fearon ER, Kazazian HH, Waber PG, Lee JI, Antonarakis SE, Orkin SH, Vanin EF, Henthorn PS, Grosveld FG, Scott AF, Buchanan GR, The entire beta-globin gene cluster is deleted in a form of gamma delta beta-thalassemia., Blood, 61(6), 1269-74, 1983
Created on 2010-06-16 16:13:17,
Last reviewed on 2013-10-15 17:28:32 (Show full history)
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