IthaID: 2681
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs267188 | HGVS Name: | NC_000006.12:g.7840548T>A |
Context nucleotide sequence:
GTGTTGGCCAAAGGTCTAGGACAGG [A/T] GAGAAATTTCCACTGGGATGGTCTG (Strand: +)
Also known as:
Comments: SNP associated with bacteremia in the Cooperative Study of Sickle Cell Disease (CSSCD) (145 cases; 1248 controls).
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: | Bacteremia [HP:0031864] |
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
- Adewoye AH, Nolan VG, Ma Q, Baldwin C, Wyszynski DF, Farrell JJ, Farrer LA, Steinberg MH, Association of polymorphisms of IGF1R and genes in the transforming growth factor- beta /bone morphogenetic protein pathway with bacteremia in sickle cell anemia., Clin. Infect. Dis. , 43(5), 593-8, 2006
Created on 2016-05-11 17:31:50,
Last reviewed on 2019-07-03 14:40:33 (Show full history)
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