rs2497721988

This variant is located in the KCNJ5 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Cardiovascular phenotype

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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