Home > Gene Browser > CLCNKB
CLCNKB
- Synonyms
- CLCKB, ClC-K2, ClC-Kb
- External resources
- NCBI1188
- OMIM602023
- EnsemblENSG00000184908
- HGNCHGNC:2027
- Summary
- 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.
Variant counts
The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.
- Pathogenic
- 76
- Likely pathogenic
- 4
- VUS
- 183,725
- Likely benign
- 25,104
- Benign
- 0
Patient phenotypes
Proportions of phenotypes among 74 patients carrying pathogenic or likely pathogenic variants on CLCNKB gene are displayed below.
- Phenotype class
- Patients in 3billion (%)
- Abnormality of the nervous system
- 40.5%
- Abnormality of the musculoskeletal system
- 28.4%
- Abnormality of head or neck
- 25.7%
- Abnormality of the eye
- 20.3%
- Abnormality of the integument
- 17.6%
- Abnormality of limbs
- 13.5%
- Abnormality of the cardiovascular system
- 12.2%
- Abnormality of the ear
- 12.2%
- Growth abnormality
- 12.2%
- Abnormality of the genitourinary system
- 10.8%
- Abnormality of prenatal development or birth
- 2.7%
- Abnormality of the digestive system
- 2.7%
- Abnormality of the respiratory system
- 2.7%
- Abnormality of blood and blood-forming tissues
- 1.4%
- Abnormality of the endocrine system
- 1.4%
- Abnormality of the immune system
- 1.4%
- Abnormality of the voice
- 1.4%
- Constitutional symptom
- 1.4%
- Abnormal cellular phenotype
- 0%
- Abnormality of metabolism homeostasis
- 0%
- Abnormality of the breast
- 0%
- Abnormality of the thoracic cavity
- 0%
- Neoplasm
- 0%
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