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GJC1

Synonyms
CX45, GJA7
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. Alternatively spliced transcript variants encoding the same isoform have been described.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
140
Likely benign
14
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on GJC1 gene.

Phenotype class
Patients in 3billion (%)

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