rs78192883

This variant is located in the PRKAG2 gene.

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ClinVar annotation

Likely Benign★☆☆☆

1 submitter

Wolff-Parkinson-White pattern; Hypertrophic cardiomyopathy 6

About PRKAG2

AMP-activated protein kinase (AMPK) is a heterotrimeric protein composed of a catalytic alpha subunit, a noncatalytic beta subunit, and a noncatalytic regulatory gamma subunit. Various forms of each of these subunits exist, encoded by different genes. AMPK is an important energy-sensing enzyme that monitors cellular energy status and functions by inactivating key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This gene is a member of the AMPK gamma subunit family. Mutations in this gene have been associated with Wolff-Parkinson-White syndrome, familial hypertrophic cardiomyopathy, and glycogen storage disease of the heart. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jan 2015]

View all PRKAG2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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