rs74315317

This is a variant in the GJB3 gene that changes a cysteine to an serine.

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ClinVar annotation

Pathogenic

1 submitter1 publication

Erythrokeratodermia variabilis et progressiva 1 (EKVP1)

About GJB3

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 can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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