SLC12A1 Chromosome 15
Solute carrier family 12 member 1
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What This Gene Does
This gene encodes a kidney-specific sodium-potassium-chloride cotransporter that is expressed on the luminal membrane of renal epithelial cells of the thick ascending limb of Henle's loop and the macula densa. It plays a key role in concentrating urine and accounts for most of the NaCl resorption. It is sensitive to such diuretics as furosemide and bumetanide. Some Bartter-like syndromes result from defects in this gene. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity in humans has not been experimentally proven.[provided by RefSeq, May 2010]
Gene Info
Gene Group
Solute carrier family 12
Locus Type
gene with protein product
Location
15q21.1
Ensembl
ENSG00000074803
Associated Conditions (8)
Bartter disease type 1
Inborn genetic diseases
SLC12A1-related disorder
Clear cell carcinoma of kidney
Bartter syndrome
Nephrocalcinosis
Nephrolithiasis
See cases
Key Variants
RS116848967
Conflicting classifications of pathogenicity
Bartter disease type 1, Inborn genetic diseases, SLC12A1-related disorder
Health Risk
RS137893258
Conflicting classifications of pathogenicity
Bartter disease type 1, SLC12A1-related disorder, Bartter disease type 1
Health Risk
RS1380626543
Conflicting classifications of pathogenicity
SLC12A1-related disorder, Inborn genetic diseases, SLC12A1-related disorder
Health Risk
RS138382420
Conflicting classifications of pathogenicity
Bartter disease type 1, Inborn genetic diseases, Bartter disease type 1
Health Risk
RS139471047
Conflicting classifications of pathogenicity
Inborn genetic diseases, Bartter disease type 1, Inborn genetic diseases
Health Risk
RS139832082
Conflicting classifications of pathogenicity
Bartter disease type 1, SLC12A1-related disorder, Bartter disease type 1
Health Risk
RS140636270
Conflicting classifications of pathogenicity
Bartter disease type 1, Bartter disease type 1
Health Risk
RS140747686
Conflicting classifications of pathogenicity
Bartter disease type 1, Bartter disease type 1
Health Risk
RS141683652
Conflicting classifications of pathogenicity
Inborn genetic diseases, Bartter disease type 1, Inborn genetic diseases
Health Risk
RS142360465
Conflicting classifications of pathogenicity
Bartter disease type 1, Clear cell carcinoma of kidney, Bartter disease type 1
Health Risk
RS142646329
Conflicting classifications of pathogenicity
Health Risk
RS145003411
Conflicting classifications of pathogenicity
Bartter disease type 1, Bartter disease type 1
Health Risk
All Variants (147)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS116848967 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 1, Inborn genetic diseases, SLC12A1-related disorder |
| RS137893258 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 1, SLC12A1-related disorder, Bartter disease type 1 |
| RS1380626543 | Health Risk | Conflicting classifications of pathogenicity | SLC12A1-related disorder, Inborn genetic diseases, SLC12A1-related disorder |
| RS138382420 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 1, Inborn genetic diseases, Bartter disease type 1 |
| RS139471047 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Bartter disease type 1, Inborn genetic diseases |
| RS139832082 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 1, SLC12A1-related disorder, Bartter disease type 1 |
| RS140636270 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 1, Bartter disease type 1 |
| RS140747686 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 1, Bartter disease type 1 |
| RS141683652 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Bartter disease type 1, Inborn genetic diseases |
| RS142360465 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 1, Clear cell carcinoma of kidney, Bartter disease type 1 |
| RS142646329 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145003411 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 1, Bartter disease type 1 |
| RS145784441 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 1, Bartter disease type 1 |
| RS1465842300 | Health Risk | Conflicting classifications of pathogenicity | Bartter syndrome, Inborn genetic diseases, Bartter syndrome |
| RS147684303 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 1, Bartter disease type 1 |
| RS148689126 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS150258541 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Bartter disease type 1, Inborn genetic diseases |
| RS200417237 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 1, Bartter disease type 1 |
| RS200662267 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 1, Bartter disease type 1 |
| RS200934309 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 1, Bartter disease type 1 |
| RS201501478 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 1, Bartter disease type 1 |
| RS2505026929 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 1, Bartter disease type 1 |
| RS2505058115 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 1, Bartter disease type 1 |
| RS34661166 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 1, Bartter disease type 1 |
| RS34819316 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 1, SLC12A1-related disorder, Bartter disease type 1 |
| RS35300056 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 1, Bartter disease type 1 |
| RS370459859 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 1, SLC12A1-related disorder, Bartter disease type 1 |
| RS371242796 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 1, Bartter disease type 1 |
| RS372350814 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 1, Bartter disease type 1 |
| RS373172332 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 1, Bartter disease type 1 |
| RS376830687 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 1, Bartter disease type 1 |
| RS747229048 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 1, Bartter syndrome, Bartter disease type 1 |
| RS752794098 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 1, Bartter disease type 1 |
| RS753965618 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 1, Bartter disease type 1 |
| RS761397379 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 1, SLC12A1-related disorder, Bartter disease type 1 |
| RS762041441 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 1, Bartter disease type 1 |
| RS763036680 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS765175595 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 1, Bartter disease type 1 |
| RS767198562 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 1, Bartter disease type 1 |
| RS768048553 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 1, Inborn genetic diseases, Bartter disease type 1 |
| RS769806467 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 1, Bartter disease type 1 |
| RS771458863 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 1, Bartter disease type 1 |
| RS778539276 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 1, Bartter disease type 1 |
| RS780448089 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 1, Bartter disease type 1 |
| RS1057520301 | Health Risk | Likely pathogenic | Bartter disease type 1, Bartter disease type 1 |
| RS1257912563 | Health Risk | Likely pathogenic | — |
| RS1269491438 | Health Risk | Likely pathogenic | — |
| RS1339440799 | Health Risk | Likely pathogenic | — |
| RS1366101480 | Health Risk | Likely pathogenic | Bartter syndrome, Bartter disease type 1, Bartter syndrome |
| RS1370120380 | Health Risk | Likely pathogenic | Bartter disease type 1, Bartter disease type 1 |