rs1192867092

This variant is located in the KCNQ5 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

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About KCNQ5

This gene is a member of the KCNQ potassium channel gene family that is differentially expressed in subregions of the brain and in skeletal muscle. The protein encoded by this gene yields currents that activate slowly with depolarization and can form heteromeric channels with the protein encoded by the KCNQ3 gene. Currents expressed from this protein have voltage dependences and inhibitor sensitivities in common with M-currents. They are also inhibited by M1 muscarinic receptor activation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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