IthaID: 1552
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Japanese | HGVS Name: | NC_000011.10:g.4600605_6019332delinsCACTTGGTTATGATGTATT |
| 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: | Japanese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Furuya C, Yamashiro Y, Hattori Y, Hino M, Nishioka H, Shimizu Y, Okano K, Horibe K, A novel epsilon gamma delta beta thalassemia of 1.4 Mb deletion found in a Japanese patient., American journal of hematology, 83(1), 84-6, 2008
Created on 2010-06-16 16:13:17,
Last reviewed on 2013-10-15 17:28:32 (Show full history)
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