IthaID: 2673

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs8041224 HGVS Name: NG_009492.1:g.109905T>C

Context nucleotide sequence:

Also known as:

Comments: SNP associated with bacteraemia in the Cooperative Study of Sickle Cell Disease (CSSCD) (145 cases; 1248 controls).

External Links


Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Bacteremia [HP:0031864]


Chromosome: 15
Locus: NG_009492.1
Locus Location: 109905
Size: 1 bp
Located at: IGF1R
Specific Location: Intron 2

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

Publications / Origin

  1. 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 12:05:34, Last reviewed on 2019-07-03 14:36:10 (Show full history)

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