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
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
- 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 PubMed
- 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 PubMed
Created on 2010-06-16 16:13:17,
Last reviewed on 2022-05-27 11:30:25 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:17 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:28:32 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2022-05-27 11:30:25 | The IthaGenes Curation Team | Reviewed. HGVS name corrected. Reference and comment added. |
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IthaGenes was last updated on 2024-11-20 13:24:07