CLCNKA Chromosome 1
Chloride voltage-gated channel Ka
Upload your DNA to see your personal genotypes for variants in CLCNKA.
What This Gene Does
This gene is a member of the CLC family of voltage-gated chloride channels. The encoded protein is predicted to have 12 transmembrane domains, and requires a beta subunit called barttin to form a functional channel. It is thought to function in salt reabsorption in the kidney and potassium recycling in the inner ear. The gene is highly similar to CLCNKB, which is located 10 kb downstream from this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
CLC chloride channel and transporter family
Locus Type
gene with protein product
Location
1p36.13
Ensembl
ENSG00000186510
Associated Conditions (12)
Bartter disease type 4B
Thyroid cancer
nonmedullary
1
Ovarian serous cystadenocarcinoma
Malignant tumor of esophagus
Bartter disease type 3
Sensorineural hearing loss disorder
CHARGE syndrome
Deafness
Hearing loss
autosomal recessive
Key Variants
RS138110172
Conflicting classifications of pathogenicity
Bartter disease type 4B, Bartter disease type 4B
Health Risk
RS139564196
Conflicting classifications of pathogenicity
Bartter disease type 4B, Bartter disease type 4B
Health Risk
RS201309731
Conflicting classifications of pathogenicity
Thyroid cancer, nonmedullary, 1
Health Risk
RS202069201
Conflicting classifications of pathogenicity
Bartter disease type 4B, Bartter disease type 3, Sensorineural hearing loss disorder
Health Risk
RS556704888
Conflicting classifications of pathogenicity
Bartter disease type 4B, CHARGE syndrome, Bartter disease type 4B
Health Risk
RS2524331289
Likely pathogenic
Bartter disease type 4B, Bartter disease type 4B
Health Risk
RS373187796
Likely pathogenic
Bartter disease type 4B, Bartter disease type 4B
Health Risk
RS121909137
Pathogenic
Bartter disease type 4B, Bartter disease type 4B
Health Risk
RS121909138
Pathogenic
Bartter disease type 4B, Bartter disease type 4B
Health Risk
RS1557458426
Pathogenic/Likely pathogenic
Deafness, Hearing loss, autosomal recessive
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138110172 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 4B, Bartter disease type 4B |
| RS139564196 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 4B, Bartter disease type 4B |
| RS201309731 | Health Risk | Conflicting classifications of pathogenicity | Thyroid cancer, nonmedullary, 1 |
| RS202069201 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 4B, Bartter disease type 3, Sensorineural hearing loss disorder |
| RS556704888 | Health Risk | Conflicting classifications of pathogenicity | Bartter disease type 4B, CHARGE syndrome, Bartter disease type 4B |
| RS2524331289 | Health Risk | Likely pathogenic | Bartter disease type 4B, Bartter disease type 4B |
| RS373187796 | Health Risk | Likely pathogenic | Bartter disease type 4B, Bartter disease type 4B |
| RS121909137 | Health Risk | Pathogenic | Bartter disease type 4B, Bartter disease type 4B |
| RS121909138 | Health Risk | Pathogenic | Bartter disease type 4B, Bartter disease type 4B |
| RS1557458426 | Health Risk | Pathogenic/Likely pathogenic | Deafness, Hearing loss, autosomal recessive |