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:

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


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


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)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.