rs1278372772
This variant is located in the CLCNKB gene.
▶ClinVar annotation
About CLCNKB
The protein encoded by this gene is a member of the family of voltage-gated chloride channels. Chloride channels have several functions, including the regulation of cell volume, membrane potential stabilization, signal transduction and transepithelial transport. This gene is expressed predominantly in the kidney and may be important for renal salt reabsorption. Mutations in this gene are associated with autosomal recessive Bartter syndrome type 3 (BS3). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
View all CLCNKB variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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