IthaID: 3845
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs7924684 | HGVS Name: | NG_000007.3:g.52118G>A |
Context nucleotide sequence:
GGTTGGCTGATGGAAAGATGGGGCA [G>A] CTGTTCACTGGTACGCAGGGTTTTAGA (Strand: -)
Also known as:
Comments: Associated with HbF levels and gamma chains ratio (Gγ:Αγ) in an Angolan pediatric population with sickle cell anaemia.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Associated Phenotypes: | Hb F levels [HP:0011904] [OMIM:141749] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 52118 |
| Size: | 1 bp |
| Located at: | BGLT3 |
| Specific Location: | N/A |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Angolan |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Delgadinho M, Ginete C, Santos B, Miranda A, Brito M, Genotypic Diversity among Angolan Children with Sickle Cell Anemia., Int J Environ Res Public Health, 18(10), 0, 2021
Created on 2021-08-20 15:58:35,
Last reviewed on 2021-08-20 15:59:36 (Show full history)
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