IthaID: 3486
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 314 GAA>GA- | HGVS Name: | NG_013087.1:g.7172delA |
Also known as: c.942delA
Comments: Found in a homozygous state in Iranian β-thalassaemia intermedia patients with no mutations detected in the HBA and HBB genes, and presenting with elevated HbF levels (≥60%).
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Associated Phenotypes: | Hb F levels [HP:0011904] [OMIM:141749] |
Location
| Chromosome: | 19 |
|---|---|
| Locus: | NG_013087.1 |
| Locus Location: | 7172 |
| Size: | 1 bp |
| Located at: | KLF1 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Iranian |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Tamaddoni A, Khabaz Astaneh S, Tabaripour R, Akhavan-Niaki H, Gene Mutations in Thalassemia Patients from North Iran: Report of a New Mutation Associated with β-Thalassemia Intermedia., Hemoglobin, 43(1), 12-17, 2019
Created on 2019-11-05 15:23:35,
Last reviewed on (Show full history)
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