IthaID: 2551
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
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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 |
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Hemoglobinopathy Subgroup: | εγδβ-thalassaemia |
Allele Phenotype: | (εGγAγδβ)0 |
Associated Phenotypes: | N/A |
Other details
Type of Mutation: | Deletion |
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Ethnic Origin: | Austrian |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Breakpoint Determined: | No |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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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 PubMed
Created on 2015-01-12 13:09:53,
Last reviewed on (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2015-01-12 13:09:53 | The IthaGenes Curation Team | Created |
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IthaGenes was last updated on 2024-09-28 12:00:32