rs1319464652

This variant is located in the SLMAP gene.

ClinVar annotation

Likely Benign☆☆☆
1 submitter1 publication

Brugada syndrome

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About SLMAP

This gene encodes a component of a conserved striatin-interacting phosphatase and kinase complex. Striatin family complexes participate in a variety of cellular processes including signaling, cell cycle control, cell migration, Golgi assembly, and apoptosis. The protein encoded by this gene is a coiled-coil, tail-anchored membrane protein with a single C-terminal transmembrane domain that is posttranslationally inserted into membranes. Mutations in this gene are associated with Brugada syndrome, a cardiac channelopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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