SLC12A3 Chromosome 16

Solute carrier family 12 member 3

405 variants 405 Health Risk

Upload your DNA to see your personal genotypes for variants in SLC12A3.

What This Gene Does

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]

Gene Info

Gene Group

"MicroRNA protein coding host genes|Solute carrier family 12"

Locus Type

gene with protein product

Location

16q13

Ensembl

ENSG00000070915

Associated Conditions (15)

Familial hypokalemia-hypomagnesemia

SLC12A3-related disorder

Hypokalemia

Inborn genetic diseases

Thymoma

Renal tubulopathies

Bartter syndrome

Hypermagnesemia

Myalgia

Muscle weakness

Cervical cancer

Congenital portosystemic shunt

Familial aortopathy

Renal tubular acidosis

Inherited renal tubular disease

Key Variants

RS1037430183

Conflicting classifications of pathogenicity

Familial hypokalemia-hypomagnesemia, SLC12A3-related disorder, Familial hypokalemia-hypomagnesemia

Health Risk

RS1041531529

Conflicting classifications of pathogenicity

Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia

Health Risk

RS1159677951

Conflicting classifications of pathogenicity

Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia

Health Risk

RS117440321

Conflicting classifications of pathogenicity

Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia

Health Risk

RS117987946

Conflicting classifications of pathogenicity

Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia

Health Risk

RS1222807128

Conflicting classifications of pathogenicity

Health Risk

RS1263244811

Conflicting classifications of pathogenicity

Health Risk

RS1290372649

Conflicting classifications of pathogenicity

Health Risk

RS13306666

Conflicting classifications of pathogenicity

Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia

Health Risk

RS1335054266

Conflicting classifications of pathogenicity

Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia

Health Risk

RS139329616

Conflicting classifications of pathogenicity

Familial hypokalemia-hypomagnesemia, SLC12A3-related disorder, Familial hypokalemia-hypomagnesemia

Health Risk

RS139828223

Conflicting classifications of pathogenicity

Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia

Health Risk

All Variants (405)

RSID	Category	Clinical Significance	Conditions
RS375542454	Health Risk	Conflicting classifications of pathogenicity	Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS375630796	Health Risk	Conflicting classifications of pathogenicity	—
RS375828467	Health Risk	Conflicting classifications of pathogenicity	Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS375990084	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Familial hypokalemia-hypomagnesemia, Inborn genetic diseases
RS376819753	Health Risk	Conflicting classifications of pathogenicity	Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS376908568	Health Risk	Conflicting classifications of pathogenicity	Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS377456965	Health Risk	Conflicting classifications of pathogenicity	Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS387907472	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Familial hypokalemia-hypomagnesemia, Inborn genetic diseases
RS539069621	Health Risk	Conflicting classifications of pathogenicity	Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS559626481	Health Risk	Conflicting classifications of pathogenicity	Familial hypokalemia-hypomagnesemia, Bartter syndrome, Familial hypokalemia-hypomagnesemia
RS745327566	Health Risk	Conflicting classifications of pathogenicity	Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS747197324	Health Risk	Conflicting classifications of pathogenicity	Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS748547209	Health Risk	Conflicting classifications of pathogenicity	Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS752101663	Health Risk	Conflicting classifications of pathogenicity	Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS753841103	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS757776621	Health Risk	Conflicting classifications of pathogenicity	Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS758304056	Health Risk	Conflicting classifications of pathogenicity	Familial hypokalemia-hypomagnesemia, Inborn genetic diseases, Familial hypokalemia-hypomagnesemia
RS758685493	Health Risk	Conflicting classifications of pathogenicity	Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS759198908	Health Risk	Conflicting classifications of pathogenicity	Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS759532318	Health Risk	Conflicting classifications of pathogenicity	Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS761193208	Health Risk	Conflicting classifications of pathogenicity	Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS764783539	Health Risk	Conflicting classifications of pathogenicity	Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS764801122	Health Risk	Conflicting classifications of pathogenicity	Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS765240540	Health Risk	Conflicting classifications of pathogenicity	—
RS76750525	Health Risk	Conflicting classifications of pathogenicity	Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS768537535	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Familial hypokalemia-hypomagnesemia, Inborn genetic diseases
RS769047841	Health Risk	Conflicting classifications of pathogenicity	Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS769412145	Health Risk	Conflicting classifications of pathogenicity	Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS772589653	Health Risk	Conflicting classifications of pathogenicity	Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS772849642	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS773428143	Health Risk	Conflicting classifications of pathogenicity	Familial hypokalemia-hypomagnesemia, Inborn genetic diseases, Familial hypokalemia-hypomagnesemia
RS773727087	Health Risk	Conflicting classifications of pathogenicity	Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS774002083	Health Risk	Conflicting classifications of pathogenicity	Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS774278391	Health Risk	Conflicting classifications of pathogenicity	Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS774753202	Health Risk	Conflicting classifications of pathogenicity	Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS774753302	Health Risk	Conflicting classifications of pathogenicity	Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS776296772	Health Risk	Conflicting classifications of pathogenicity	—
RS776382586	Health Risk	Conflicting classifications of pathogenicity	Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS778585043	Health Risk	Conflicting classifications of pathogenicity	Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS779074538	Health Risk	Conflicting classifications of pathogenicity	Hypokalemia, Hypermagnesemia, Myalgia
RS780433336	Health Risk	Conflicting classifications of pathogenicity	Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS781030242	Health Risk	Conflicting classifications of pathogenicity	Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS886039754	Health Risk	Conflicting classifications of pathogenicity	Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS1028685823	Health Risk	Likely pathogenic	Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS1202006117	Health Risk	Likely pathogenic	—
RS121909380	Health Risk	Likely pathogenic	Familial hypokalemia-hypomagnesemia, Bartter syndrome, Familial hypokalemia-hypomagnesemia
RS121909382	Health Risk	Likely pathogenic	Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS1246053601	Health Risk	Likely pathogenic	Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS1251732657	Health Risk	Likely pathogenic	Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS1297766065	Health Risk	Likely pathogenic	Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia

« Prev 1 2 3 4 5 ... 9 Next »