IthaID: 1508
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Japanese (δβ)0 | HGVS Name: | NC_000011.10:g.5132468_5246133del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: Deletion of 113666 nts from the Agamma gene to beta gene.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | δβ-thalassaemia |
| Allele Phenotype: | GγAγ(δβ)0 |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 51483 |
| Size: | 113.666 kb |
| Deletion involves: | δ, β, pseudo β |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Japan |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Matsunaga E, Kimura A, Yamada H, Fukumaki Y, Takagi Y, A novel deletion in delta beta-thalassemia found in Japan., Biochemical and biophysical research communications, 126(1), 185-91, 1985
Created on 2010-06-16 16:13:17,
Last reviewed on 2021-03-16 16:12:56 (Show full history)
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