IthaID: 2498
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 86.7 kb (Αγδβ)0 Indian del | HGVS Name: | NC_000011.10:g.5164124_5250830delinsTG |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as: HPFH-10
Comments: The 5' breakpoint lies 4.3 kb downstream of Gγ-globin gene and the 3' breakpoint lies in L1 repeat 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: | Gγ(Aγδβ)0 HPFH |
| Associated Phenotypes: | Hb F levels [HP:0011904] [OMIM:141749] |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Indian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | No |
In silico pathogenicity prediction
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
Created on 2014-06-05 09:41:55,
Last reviewed on 2019-09-26 16:36:17 (Show full history)
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