IthaID: 3221
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs13080125 | HGVS Name: | NG_009227.1:g.82390T>C |
Context nucleotide sequence:
GTGGCACAATCTCAGCTTACTGCAA [C/T] CTCTGCCTCCTGGATTCAAGGGATT (Strand: +)
Also known as:
Comments: SNP associated with HbF levels in African American Benin haplotype patients (sample taken from the Cooperative Study of Sickle Cell Disease (CSSCD)).
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: | 3 |
|---|---|
| Locus: | NG_009227.1 |
| Locus Location: | 82390 |
| Size: | 1 bp |
| Located at: | PAK2 |
| Specific Location: | Intron 11 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | African American |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Shaikho EM, Farrell JJ, Alsultan A, Sebastiani P, Steinberg MH, Genetic Determinants of HbF in Saudi Arabian and African Benin Haplotype Sickle Cell Anemia., Am. J. Hematol. , 2017
Created on 2017-07-10 01:18:04,
Last reviewed on (Show full history)
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