rs779559035
This variant is located in the SLC12A3 gene.
▶ClinVar annotation
not provided; Familial hypokalemia-hypomagnesemia
View on ClinVar →About SLC12A3
This gene encodes a renal thiazide-sensitive sodium-chloride cotransporter that is important for electrolyte homeostasis. This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule. Mutations in this gene cause Gitelman syndrome, a disease similar to Bartter's syndrome, that is characterized by hypokalemic alkalosis combined with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. This cotransporter is the target for thiazide diuretics that are used for treating high blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
View all SLC12A3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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