IthaID: 2276
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs944725 | HGVS Name: | NG_011470.1:g.22985G>A |
Context nucleotide sequence:
TTTGATATTATCCTGCAACAAATGA [C/T] TCCCCAACAAAAAGATGGCCTAGGA (Strand: +)
Also known as:
Comments: SNP associated with the HbF response (increase) to hydroxyurea treatment in sickle cell anaemia patients of African-American origin (MSH cohort) [PMID: 17299377] and in Hb S/β-thal patients of Hellenic (Greek) origin in two independent studies [PMID: 31039620].
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: | 17 |
|---|---|
| Locus: | NG_011470.1 |
| Locus Location: | 22985 |
| Size: | 1 bp |
| Located at: | NOS2 |
| Specific Location: | Intron 6 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | African American, Greek |
| 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
- Chalikiopoulou C, Tavianatou AG, Sgourou A, Kourakli A, Kelepouri D, Chrysanthakopoulou M, Kanelaki VK, Mourdoukoutas E, Siamoglou S, John A, Symeonidis A, Ali BR, Katsila T, Papachatzopoulou A, Patrinos GP, Genomic variants in the ASS1 gene, involved in the nitric oxide biosynthesis and signaling pathway, predict hydroxyurea treatment efficacy in compound sickle cell disease/β-thalassemia patients., Pharmacogenomics , 17(4), 393-403, 2016
- Kolliopoulou A, Siamoglou S, John A, Sgourou A, Kourakli A, Symeonidis A, Vlachaki E, Chalkia P, Theodoridou S, Ali BR, Katsila T, Patrinos GP, Papachatzopoulou A, Role of Genomic Biomarkers in Increasing Fetal Hemoglobin Levels Upon Hydroxyurea Therapy and in β-Thalassemia Intermedia: A Validation Cohort Study., Hemoglobin, 2019
Created on 2013-10-07 15:50:44,
Last reviewed on 2019-05-28 12:40:08 (Show full history)
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