rs4252499
This variant is located in the TRPV5 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Association of TRPV5 gene polymorphism with calcium urolithiasis: a case–control study from West Bengal, IndiaAssociationN=296Pubali Mitra et al.(2020)· World Journal of Urology
A case-control study of 152 urolithiasis patients and 144 controls from West Bengal, India identified significant associations between TRPV5 gene polymorphisms and calcium urolithiasis risk. The non-synonymous variant rs4236480 (Arg154His, CGT>CAT) showed strong association with increased disease risk (allelic OR 1.77, 95% CI 1.24-2.51, p=0.001; homozygous AA genotype OR 3.09, 95% CI 1.26-7.59, p=0.0136). Additionally, the synonymous variant rs4252417 (OR 2.46, 95% CI 1.07-5.69, p=0.029) and intronic variants rs4252400, rs4252402, and rs4236481 showed significant associations.
About TRPV5
This gene is a member of the transient receptor family and the TrpV subfamily. The calcium-selective channel encoded by this gene has 6 transmembrane-spanning domains, multiple potential phosphorylation sites, an N-linked glycosylation site, and 5 ANK repeats. This protein forms homotetramers or heterotetramers and is activated by a low internal calcium level. [provided by RefSeq, Jul 2008]
View all TRPV5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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