rs1571580224
This variant is located in the GJB3 gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout 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]
View all GJB3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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