rs6590357

This is a synonymous variant in the KCNJ5 gene — it does not change the protein's amino acid sequence.

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ClinVar annotation

Benign★★★☆
13 submitters2 publications

Cardiovascular phenotype; Congenital long QT syndrome (RWS); Familial hyperaldosteronism type III; Long QT syndrome (LQTS); Long QT syndrome 13 (LQT13); not specified

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Research that mentions this SNP (1)

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The research of ion channel‐related gene polymorphisms with atrial fibrillation in the Chinese Han population
AssociationN=381Xiumin Liu et al.(2019)· Molecular Genetics & Genomic Medicine

This case-control study of 381 Chinese Han patients (185 with atrial fibrillation, 196 controls) investigated associations between ion channel-related gene polymorphisms and AF risk. Three SNPs were significantly associated with AF: rs8134775 near KCNE2 conferred decreased AF risk (OR = 0.70; p = 0.034), rs35594137 in GJA5 conferred decreased AF risk in the recessive model (OR = 0.40; p = 0.018), and rs8079702 near KCNJ2 conferred increased AF risk in the recessive model (OR = 2.31; p = 0.012).

Traits studied:Atrial fibrillation
PubMedDOIMetascience Observatory

About KCNJ5

This gene encodes an integral membrane protein which belongs to one of seven subfamilies of inward-rectifier potassium channel proteins called potassium channel subfamily J. The encoded protein is a subunit of the potassium channel which is homotetrameric. It is controlled by G-proteins and has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Naturally occurring mutations in this gene are associated with aldosterone-producing adenomas. [provided by RefSeq, Aug 2017]

View all KCNJ5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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