IthaID: 2497
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 49.98 kb (δβ)0 Indian del | HGVS Name: | NC_000011.10:g.5194285_5244267del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as: HPFH-9
Comments: The 5' breakpoint lies in Alu repeats at ~4 kb downstream of Gγ-globin gene and the 3' breakpoint lies in L1 repeat and a perfect 160 bp palindrome sequence.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | HPFH |
|---|---|
| Hemoglobinopathy Subgroup: | HPFH |
| Allele Phenotype: | GγAγ(δβ)0 HPFH |
| Associated Phenotypes: | Hb F levels [HP:0011904] [OMIM:141749] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | N/A |
| Size: | 49.98 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: | No |
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
- 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 2014-06-05 09:40:03,
Last reviewed on 2019-09-26 16:32:03 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2014-06-05 09:40:03 | The IthaGenes Curation Team | Created |
| 2 | 2019-09-26 16:27:34 | The IthaGenes Curation Team | Reviewed. Common name edited. |
| 3 | 2019-09-26 16:31:09 | The IthaGenes Curation Team | Reviewed. Comment added. |
| 4 | 2019-09-26 16:32:03 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-11-20 13:24:07