IthaID: 2661



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs730012 HGVS Name: NG_028161.1:g.4653A>C

Context nucleotide sequence:
TGCCAGGAACAGCCTGGATGGGGAC [A/C] GGGAACAGATAAGGTGGGTGGAGGA (Strand: +)

Also known as:

Comments: SNP associated with stroke risk in pediatric sickle cell disease (SCD) patients acquired from the multicenter Stroke Prevention Trial in Sickle Cell Anemia (STOP) study (49 cases, 49 controls) [PMID: 17600229]. The association was not replicated in an independent study, which enrolled pediatric SCD patients from the Stroke With Transfusion Changing to Hydrxyurea (SWiTCH) trial (130 cases; 103 controls enrolled from the HUSTLE study) [PMID: 21515823].

External Links

Phenotype

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

Location

Chromosome: 5
Locus: NG_028161.1
Locus Location: 4653
Size: 1 bp
Located at: LTC4S
Specific Location: N/A

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

Sequence Viewer

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Publications / Origin

  1. Hoppe C, Klitz W, D'Harlingue K, Cheng S, Grow M, Steiner L, Noble J, Adams R, Styles L, , Confirmation of an association between the TNF(-308) promoter polymorphism and stroke risk in children with sickle cell anemia., Stroke , 38(8), 2241-6, 2007 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
Created on 2016-05-10 19:50:59, Last reviewed on (Show full history)

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