IthaID: 2894
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs5742911 | HGVS Name: | NG_009060.1:g.48389A>G |
Context nucleotide sequence:
ACCATGCATGGTGCATCAGCAGCCC [A/G] TGGCCTCTGGCCAGGCATGGCGAGG (Strand: +)
Also known as:
Comments: SNP associated with protection from stroke (small vessel subtype) in the Cooperative Study of Sickle Cell Disease (CSSCD; n=230).
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: | Stroke [HP:0001297] [OMIM:601367] |
Location
| Chromosome: | 19 |
|---|---|
| Locus: | NG_009060.1 |
| Locus Location: | 48389 |
| Size: | 1 bp |
| Located at: | LDLR |
| Specific Location: | 3'UTR |
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
- Hoppe C, Klitz W, Cheng S, Apple R, Steiner L, Robles L, Girard T, Vichinsky E, Styles L, , Gene interactions and stroke risk in children with sickle cell anemia., Blood , 103(6), 2391-6, 2004
- Driss A, Asare KO, Hibbert JM, Gee BE, Adamkiewicz TV, Stiles JK, Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype., Genomics Insights , 2009(2), 23-48, 2009
Created on 2016-05-23 09:37:22,
Last reviewed on (Show full history)
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