IthaID: 3503


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs10942625 HGVS Name: NG_007083.2:g.590532G>A

Context nucleotide sequence:
CATTTCCTTTTTCTTTGGAATCGTG [G>A] CCCCTCAAGTCTTGGCTGCCTTGGA (Strand: +)

Also known as:

Comments: SNP associated with painful crisis in patients from the Cooperative Study of Sickle Cell Disease (CSSCD, n=1514). The association was not replicated in a second, independent group of patients from the CSSCD (n=387).

External Links

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Pain [HP:0012531]

Location

Chromosome: 5
Locus: NG_007083.2
Locus Location: 590532
Size: 1 bp
Located at: ADGRV1
Specific Location: Intron 87

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. Galarneau G, Coady S, Garrett ME, Jeffries N, Puggal M, Paltoo D, Soldano K, Guasch A, Ashley-Koch AE, Telen MJ, Kutlar A, Lettre G, Papanicolaou GJ, Gene-centric association study of acute chest syndrome and painful crisis in sickle cell disease patients., Blood , 122(3), 434-42, 2013
Created on 2019-11-27 09:37:09, Last reviewed on (Show full history)

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