IthaID: 2142
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs9693712 | HGVS Name: | NG_011993.1:g.89345G>A |
Context nucleotide sequence:
TCATTTTGTCCACACAGCAACCCTA [C/T] GGGGTAGGAATGAGTATCATCCCCA (Strand: +)
Also known as:
Comments: SNP associated with the HbF response to treatment with hydroxyurea in individuals with sickle cell disease (n=137) acquired from the Multicenter Study of Hydroxyurea in Sickle Cell Anemia (MSH). This SNP interacts with the XmnI locus to influence the expression of the γ-globin gene in β-TI patients from Iran.
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 response to hydroxyurea |
Location
| Chromosome: | 8 |
|---|---|
| Locus: | NG_011993.1 |
| Locus Location: | 89345 |
| Size: | 1 bp |
| Located at: | TOX |
| Specific Location: | Intron 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | African American, Iranian |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Ma Q, Wyszynski DF, Farrell JJ, Kutlar A, Farrer LA, Baldwin CT, Steinberg MH, Fetal hemoglobin in sickle cell anemia: genetic determinants of response to hydroxyurea., Pharmacogenomics J. , 7(6), 386-94, 2007
Created on 2013-09-27 11:49:14,
Last reviewed on 2019-05-17 10:23:24 (Show full history)
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