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GJA5

Synonyms
ATFB11, CX40
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
138
Likely benign
40
Benign
1,125

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on GJA5 gene.

Phenotype class
Patients in 3billion (%)

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