IthaID: 2607



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs7526590 HGVS Name: NG_027757.1:g.155106T>A

Context nucleotide sequence:
GCCAGCCAAACTAGATATTTCATAA [A/T] TACAGATGCAAATTCAACACCCGTC (Strand: +)

Also known as:

Comments: SNP associated with priapism in individuals with sickle cell disease (SCD) acquired from outpatient clinics at the Duke University Medical Center, the University of North Carolina Chapel Hill and the Emory University (n=199). SNP associated with risk of pulmonary hypertension in individuals with SCD acquired from outpatient clinics at the Duke University Medical Center and the University of North Carolina Chapel Hill (n=581).

External Links

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Priapism [HP:0200023] [OMIM:176620]
Pulmonary arterial hypertension [HP:0002092] [OMIM:265400]

Location

Chromosome: 1
Locus: NG_027757.1
Locus Location: 155106
Size: 1 bp
Located at: TGFBR3
Specific Location: Intron 5

Other details

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

Sequence Viewer

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Publications / Origin

  1. 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 PubMed
  2. Ashley-Koch AE, Elliott L, Kail ME, De Castro LM, Jonassaint J, Jackson TL, Price J, Ataga KI, Levesque MC, Weinberg JB, Orringer EP, Collins A, Vance JM, Telen MJ, Identification of genetic polymorphisms associated with risk for pulmonary hypertension in sickle cell disease., Blood , 111(12), 5721-6, 2008 PubMed
Created on 2016-05-09 18:07:06, Last reviewed on 2016-05-23 11:44:47 (Show full history)

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