IthaID: 2647


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs2249358 HGVS Name: NG_011485.1:g.37594G>A

Context nucleotide sequence:
TTCAGACTCCATGTTTCAAAATCTA [A/G] ATGGAAGGTAAGAAGGAAGCAAGGA (Strand: +)

Also known as:

Comments: SNP associated with priapism in the Cooperative Study of Sickle Cell Disease (CSSCD) (148 cases; 529 controls) [PMID: 15638863]. The association was not replicated in an independent sample of sickle cell patients acquired from outpatient clinics at Duke University Medical Center, the University of North Carolina Chapel Hill and Emory University (n=199) [PMID: 17408468].

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: Priapism [HP:0200023] [OMIM:176620]

Location

Chromosome: 13
Locus: NG_011485.1
Locus Location: 37594
Size: 1 bp
Located at: KL
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. Nolan VG, Baldwin C, Ma Q, Wyszynski DF, Amirault Y, Farrell JJ, Bisbee A, Embury SH, Farrer LA, Steinberg MH, Association of single nucleotide polymorphisms in klotho with priapism in sickle cell anaemia., Br. J. Haematol. , 128(2), 266-72, 2005
  2. Elliott L, Ashley-Koch AE, De Castro L, Jonassaint J, Price J, Ataga KI, Levesque MC, Brice Weinberg J, Eckman JR, Orringer EP, Vance JM, Telen MJ, Genetic polymorphisms associated with priapism in sickle cell disease., Br. J. Haematol. , 137(3), 262-7, 2007
Created on 2016-05-10 17:02:31, Last reviewed on (Show full history)

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