IthaID: 1540
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Hispanic (εγδβ)0 | HGVS Name: | NC_000011.10:g.5279573_5319355del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion removes the HS2, HS3, HS4 and HS5 elements of the βLCR leaving all β-globin genes intact but functionally inactivated.
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 |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | N/A |
| Size: | 39.783 kb |
| Deletion involves: | βLCR |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Hispanic |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Driscoll MC, Dobkin CS, Alter BP, Gamma delta beta-thalassemia due to a de novo mutation deleting the 5' beta-globin gene activation-region hypersensitive sites., Proceedings of the National Academy of Sciences of the United States of America, 86(19), 7470-4, 1989
- Amid A, Cheong M, Eng B, Hanna M, Hohenadel BA, Nakamura LM, Walker L, Odame I, Kirby-Allen M, Waye JS, Hb S/β+-thalassemia due to Hb sickle and a novel deletion of DNase I hypersensitive sites HS3 and HS4 of the β locus control region., Haematologica , 100(5), e166-8, 2015
Created on 2010-06-16 16:13:17,
Last reviewed on 2022-05-27 11:30:25 (Show full history)
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