IthaID: 3196


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs1478605 HGVS Name: NC_000015.10:g.39581083G>A

Context nucleotide sequence:
AACTCGCAGGCCAGCTCGGGCGCAG [C/T] GGCTGGCAAGGCGGAGGAGCCGCGC (Strand: -)

Also known as:

Comments: SNP associated with variation in pulmonary artery systolic pressure in individuals with sickle cell disease from the multicenter walk-PHaSST trial (Treatment of Pulmonary Hypertension and Sickle Cell Disease with Sildenafil Therapy).

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: Pulmonary arterial hypertension [HP:0002092] [OMIM:265400]

Location

Chromosome: 15
Locus: N/A
Locus Location: N/A
Size: 1 bp
Located at: THBS1
Specific Location: 5'UTR

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

In silico pathogenicity prediction

Publications / Origin

  1. Jacob SA, Novelli EM, Isenberg JS, Garrett ME, Chu Y, Soldano K, Ataga KI, Telen MJ, Ashley-Koch A, Gladwin MT, Zhang Y, Kato GJ, Thrombospondin-1 gene polymorphism is associated with estimated pulmonary artery pressure in patients with sickle cell anemia., Am. J. Hematol. , 92(3), E31-E34, 2017
Created on 2017-02-21 14:44:50, Last reviewed on (Show full history)

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