IthaID: 2674
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs2872060 | HGVS Name: | NG_009492.1:g.311733G>T |
Context nucleotide sequence:
GGTGCTGTCGGAGCCCAGCCGATGC [A/G/T] ACCGACACACAGCACAAGCGTCATC (Strand: +)
Also known as:
Comments: SNP was weakly associated with bacteraemia 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] |
Location
| Chromosome: | 15 |
|---|---|
| Locus: | NG_009492.1 |
| Locus Location: | 311733 |
| Size: | 1 bp |
| Located at: | IGF1R |
| Specific Location: | Intron 20 |
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 12:52:17,
Last reviewed on 2019-07-03 14:36:35 (Show full history)
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