IthaID: 2610



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs284875 HGVS Name: NG_027757.1:g.205852T>C

Context nucleotide sequence:
CAATAAAGAGACATAAAGCTGTCTG [A/G] CAGGAAGGACATTCGTGACCTGTTA (Strand: +)

Also known as:

Comments: SNP associated with risk of stroke in the Cooperative Study of Sickle Cell Disease (CSSCD) (92 cases; 1306 controls). The association was replicated in an independent sample of pediatric sickle cell disease patients acquired from the Stroke With Transfusion Changing to Hydrxyurea (SWiTCH) trial (130 cases; 103 controls enrolled from the HUSTLE study), in which the T allele associated with increased stroke risk. SNP (allele A) associated with an increased risk of high-risk transcranial Doppler in a pediatric Brazilian cohort with SCA (n=338).

External Links

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Stroke [HP:0001297] [OMIM:601367]

Location

Chromosome: 1
Locus: NG_027757.1
Locus Location: 205852
Size: 1 bp
Located at: TGFBR3
Specific Location: Intron 15

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: African American | Brazilian
Molecular mechanism: N/A
Inheritance: Quantitative trait
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Sebastiani P, Ramoni MF, Nolan V, Baldwin CT, Steinberg MH, Genetic dissection and prognostic modeling of overt stroke in sickle cell anemia., Nat. Genet. , 37(4), 435-40, 2005 PubMed
  2. Flanagan JM, Frohlich DM, Howard TA, Schultz WH, Driscoll C, Nagasubramanian R, Mortier NA, Kimble AC, Aygun B, Adams RJ, Helms RW, Ware RE, Genetic predictors for stroke in children with sickle cell anemia., Blood , 117(24), 6681-4, 2011 PubMed
  3. Belisário AR, Sales RR, Toledo NE, Muniz MB, Velloso-Rodrigues C, Silva CM, Viana MB, Reticulocyte count is the most important predictor of acute cerebral ischemia and high-risk transcranial Doppler in a newborn cohort of 395 children with sickle cell anemia., Ann. Hematol. , 95(11), 1869-80, 2016 PubMed
Created on 2016-05-09 18:33:15, Last reviewed on 2018-08-13 18:27:50 (Show full history)

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