IthaID: 2684


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs10518707 HGVS Name: NG_011990.1:g.12428A>G

Context nucleotide sequence:
TACTATCCACTGTTGGTTATCTAAG [A/G] CCCTTCCTATAAACAGCAGCCTGCC (Strand: +)

Also known as:

Comments: SNP associated with bacteraemia in the Cooperative Study of Sickle Cell Disease (CSSCD) (145 cases; 1248 controls). SNP associated with HbF levels in the older subjects (≥ 24 years) of the CSSCD (n=538).

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_011990.1
Locus Location: 12428
Size: 1 bp
Located at: SMAD3
Specific Location: Intron 1

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

  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
  2. Sebastiani P, Wang L, Nolan VG, Melista E, Ma Q, Baldwin CT, Steinberg MH, Fetal hemoglobin in sickle cell anemia: Bayesian modeling of genetic associations., Am. J. Hematol. , 83(3), 189-95, 2008
Created on 2016-05-11 18:02:26, Last reviewed on 2019-07-03 14:35:08 (Show full history)

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