rs768572976

This variant is located in the GJA9 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About GJA9

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]).[supplied by OMIM, Mar 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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