rs201255508

This is a variant in the SLC12A3 gene that changes a arginine to an tryptophan.

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ClinVar annotation

Pathogenic★★★☆

9 submitters6 publications

Familial hypokalemia-hypomagnesemia (GTLMNS)

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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