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GJA9

Synonyms
CX58, CX59, GJA10
External resources
Summary
Connexins, such as GJA9, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).

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
2,093
Likely benign
412
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on GJA9 gene.

Phenotype class
Patients in 3billion (%)

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