IthaID: 2929


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs3773658 HGVS Name: NG_007490.1:g.81443A>G

Context nucleotide sequence:
TGCCCCAGCTGTACTTGCTCTGGTT [A/G] GGGGAGAAATCTCTGCAATGCTTGG (Strand: +)

Also known as:

Comments: SNP associated with risk of stroke in individuals with sickle cell disease.

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: Stroke [HP:0001297] [OMIM:601367]

Location

Chromosome: 3
Locus: NG_007490.1
Locus Location: 81443
Size: 1 bp
Located at: TGFBR2
Specific Location: Intron 6

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. Fertrin KY, Costa FF, Genomic polymorphisms in sickle cell disease: implications for clinical diversity and treatment., Expert Rev Hematol , 3(4), 443-58, 2010
Created on 2016-06-07 09:43:25, Last reviewed on (Show full history)

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