CLCNKB Chromosome 1
Chloride voltage-gated channel Kb
Upload your DNA to see your personal genotypes for variants in CLCNKB.
What This Gene Does
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]
Gene Info
Gene Group
CLC chloride channel and transporter family
Locus Type
gene with protein product
Location
1p36.13
Ensembl
ENSG00000184908
Associated Conditions (23)
Bartter disease type 3
Bartter disease type 4B
Inborn genetic diseases
Hematuria
Proteinuria
Nonpapillary renal cell carcinoma
Ovarian cancer
Uterine corpus endometrial carcinoma
Clear cell carcinoma of kidney
Ovarian serous cystadenocarcinoma
Thymoma
Lung cancer
BARTTER SYNDROME
TYPE 4B
WITH SENSORINEURAL DEAFNESS
Bartter syndrome
type 3
with hypocalciuria
Epilepsy
familial focal
+3 more conditions
Key Variants
RS139304412
Conflicting classifications of pathogenicity
Bartter disease type 3, Bartter disease type 4B, Bartter disease type 3
Health Risk
RS140560320
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144043939
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144517772
Conflicting classifications of pathogenicity
Hematuria, Proteinuria, Bartter disease type 3
Health Risk
RS145798229
Conflicting classifications of pathogenicity
Bartter disease type 3, Bartter disease type 4B, Bartter disease type 3
Health Risk
RS148173992
Conflicting classifications of pathogenicity
Inborn genetic diseases, Bartter disease type 3, Bartter disease type 4B
Health Risk
RS149940233
Conflicting classifications of pathogenicity
Inborn genetic diseases, Bartter disease type 3, Bartter disease type 4B
Health Risk
RS1553128179
Conflicting classifications of pathogenicity
Health Risk
RS201510495
Conflicting classifications of pathogenicity
Health Risk
RS35258749
Conflicting classifications of pathogenicity
Bartter disease type 3, Bartter disease type 4B, Inborn genetic diseases
Health Risk
RS35351345
Conflicting classifications of pathogenicity
Nonpapillary renal cell carcinoma, Ovarian cancer, Uterine corpus endometrial carcinoma
Health Risk
RS35575612
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (80)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139304412 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 3, Bartter disease type 4B, Bartter disease type 3 |
| RS140560320 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS144043939 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS144517772 | Health Risk | Conflicting classifications of pathogenicity | Hematuria, Proteinuria, Bartter disease type 3 |
| RS145798229 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 3, Bartter disease type 4B, Bartter disease type 3 |
| RS148173992 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Bartter disease type 3, Bartter disease type 4B |
| RS149940233 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Bartter disease type 3, Bartter disease type 4B |
| RS1553128179 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201510495 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS35258749 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 3, Bartter disease type 4B, Inborn genetic diseases |
| RS35351345 | Health Risk | Conflicting classifications of pathogenicity | Nonpapillary renal cell carcinoma, Ovarian cancer, Uterine corpus endometrial carcinoma |
| RS35575612 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS369169829 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS373165304 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 3, Bartter disease type 4B, Bartter disease type 3 |
| RS375288190 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 3, Bartter disease type 4B, Bartter disease type 3 |
| RS375301415 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS376038359 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS561674468 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 3, Bartter disease type 4B, Inborn genetic diseases |
| RS751608665 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 3, Bartter disease type 4B, Bartter disease type 3 |
| RS766816427 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Bartter disease type 3, Bartter disease type 4B |
| RS768510442 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS773629445 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Bartter disease type 3, Bartter disease type 4B |
| RS777631984 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 3, Bartter disease type 4B, Bartter disease type 3 |
| RS1057521154 | Health Risk | Likely pathogenic | — |
| RS1299080019 | Health Risk | Likely pathogenic | — |
| RS139909733 | Health Risk | Likely pathogenic | Bartter disease type 3, Bartter disease type 4B, Bartter disease type 3 |
| RS144725007 | Health Risk | Likely pathogenic | — |
| RS1570340095 | Health Risk | Likely pathogenic | Bartter disease type 3, Bartter disease type 3 |
| RS2124100025 | Health Risk | Likely pathogenic | — |
| RS2124102347 | Health Risk | Likely pathogenic | Bartter disease type 3, Bartter disease type 3 |
| RS2524386003 | Health Risk | Likely pathogenic | Bartter disease type 3, Bartter disease type 3 |
| RS2524389129 | Health Risk | Likely pathogenic | Bartter disease type 3, Bartter disease type 3 |
| RS2524389961 | Health Risk | Likely pathogenic | Bartter disease type 3, Bartter disease type 3 |
| RS2524400774 | Health Risk | Likely pathogenic | — |
| RS2524401276 | Health Risk | Likely pathogenic | — |
| RS762613611 | Health Risk | Likely pathogenic | — |
| RS769053704 | Health Risk | Likely pathogenic | — |
| RS769163950 | Health Risk | Likely pathogenic | Bartter disease type 3, Bartter disease type 4B, Bartter disease type 3 |
| RS1057516207 | Health Risk | Pathogenic | Bartter disease type 3, Bartter disease type 3 |
| RS1191726071 | Health Risk | Pathogenic | BARTTER SYNDROME, TYPE 4B, WITH SENSORINEURAL DEAFNESS |
| RS1200818995 | Health Risk | Pathogenic | — |
| RS121909131 | Health Risk | Pathogenic | Bartter disease type 3, Bartter disease type 3 |
| RS121909133 | Health Risk | Pathogenic | Bartter disease type 3, Bartter disease type 4B, Bartter disease type 3 |
| RS121909134 | Health Risk | Pathogenic | Bartter disease type 3, Bartter disease type 3 |
| RS121909135 | Health Risk | Pathogenic | Bartter disease type 3, Bartter disease type 3 |
| RS121909136 | Health Risk | Pathogenic | Bartter syndrome, type 3, with hypocalciuria |
| RS1278463714 | Health Risk | Pathogenic | — |
| RS1286624133 | Health Risk | Pathogenic | — |
| RS1345239508 | Health Risk | Pathogenic | — |
| RS1461422008 | Health Risk | Pathogenic | — |