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GJA4

Synonyms
CX37
External resources
Summary
This gene encodes 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 have been associated with atherosclerosis and a higher risk of myocardial infarction.

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
983
Likely benign
565
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on GJA4 gene.

Phenotype class
Patients in 3billion (%)

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