rs782110728

This variant is located in the GJA5 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter1 publication

Atrial standstill 1;Atrial fibrillation, familial, 11

About GJA5

This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene may be associated with atrial fibrillation. Alternatively spliced transcript variants encoding the same isoform have been described. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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