IthaID: 2947
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs10793902 | HGVS Name: | NG_011542.1:g.62817C>T |
Context nucleotide sequence:
GCAAGTGACAGAACCAAGAACCAAA [C/T] CCCGGCCTGGCTGAGTCCCCAAATC (Strand: +)
Also known as:
Comments: SNP associated with the HbF response to treatment with hydroxyurea in sickle cell disease/β-thalassaemia compound heterozygous patients (n=119).
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: | 9 |
|---|---|
| Locus: | NG_011542.1 |
| Locus Location: | 62817 |
| Size: | 1 bp |
| Located at: | ASS1 |
| Specific Location: | N/A |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Greek |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- 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
Created on 2016-08-09 14:28:13,
Last reviewed on (Show full history)
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