IthaID: 2551
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Austrian I | 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: | Austrian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Zebisch A, Schulz E, Grosso M, Lombardo B, Acierno G, Sill H, Iolascon A, Identification of a novel variant of epsilon-gamma-delta-beta° thalassemia highlights limitations of next generation sequencing., Am. J. Hematol. , 2014
Created on 2015-01-12 13:09:53,
Last reviewed on (Show full history)
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