IthaID: 1506
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Indian (δβ)0 | HGVS Name: | NC_000011.10:g.5214461_5247124del |
| Hb Name: | N/A | Protein Info: | deletion of 32624 nts from the δ gene to β gene |
Also known as: 32.6 kb GγΑγ(δβ)0 Indian del
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | δβ-thalassaemia |
| Allele Phenotype: | GγAγ(δβ)0 |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 50492 |
| Size: | 32.664 kb |
| Deletion involves: | δ, β, pseudo β |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Indian |
| 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
- Mishima N, Landman H, Huisman TH, Gilman JG, The DNA deletion in an Indian delta beta-thalassaemia begins one kilobase from the A gamma globin gene and ends in an L1 repetitive sequence., British journal of haematology, 73(3), 375-9, 1989 PubMed
- Gilman JG, Brinson EC, Mishima N, The 32.6 kb Indian delta beta-thalassaemia deletion ends in a 3.4 kb L1 element downstream of the beta-globin gene., Br. J. Haematol. , 82(2), 417-21, 1992 PubMed
- Mayuranathan T, Rayabaram J, Das R, Arora N, Edison ES, Chandy M, Srivastava A, Velayudhan SR, Identification of rare and novel deletions that cause (δβ)(0) -thalassaemia and hereditary persistence of foetal haemoglobin in Indian population., Eur. J. Haematol. , 92(6), 514-20, 2014 PubMed
Created on 2010-06-16 16:13:17,
Last reviewed on 2022-02-23 14:30:39 (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 | 2014-04-09 09:33:20 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2019-09-26 16:22:27 | The IthaGenes Curation Team | Reviewed. Reference and Synonym name added. |
| 5 | 2022-02-23 14:30:39 | The IthaGenes Curation Team | Reviewed. HGVS name, Chromosome and Locus locations corrected. |
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IthaGenes was last updated on 2024-11-20 13:24:07