IthaID: 2920
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs17599586 | HGVS Name: | NG_007086.2:g.15355C>T |
Context nucleotide sequence:
TCCTTGACCTGAAACCAAGTCCCAG [C/T] TGACACTTTCAGAATGTCCATCAGT (Strand: +)
Also known as:
Comments: SNP associated with variation in HbF levels in pediatric patients with sickle cell disease receiving hydroxyurea treatment, who were recruited from the Hydroxyurea Study of Long-Term Effects (HUSTLE; n=174).
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: | 6 |
|---|---|
| Locus: | NG_007086.2 |
| Locus Location: | 15355 |
| Size: | 1 bp |
| Located at: | ARG1 |
| Specific Location: | Intron 7 |
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
- Ware RE, Despotovic JM, Mortier NA, Flanagan JM, He J, Smeltzer MP, Kimble AC, Aygun B, Wu S, Howard T, Sparreboom A, Pharmacokinetics, pharmacodynamics, and pharmacogenetics of hydroxyurea treatment for children with sickle cell anemia., Blood , 118(18), 4985-91, 2011
- Green NS, Barral S, Emerging science of hydroxyurea therapy for pediatric sickle cell disease., Pediatr. Res. , 75(1), 196-204, 2014
Created on 2016-05-25 16:12:22,
Last reviewed on (Show full history)
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