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CLCNKB

Synonyms
CLCKB, ClC-K2, ClC-Kb
External resources
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

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
37
Likely pathogenic
1
VUS
9,182
Likely benign
2,397
Benign
0

Patient phenotypes

Proportions of phenotypes among 37 patients carring 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 eye
32.4%
Abnormality of head or neck
29.7%
Abnormality of the musculoskeletal system
29.7%
Abnormality of the genitourinary system
16.2%
Growth abnormality
16.2%
Abnormality of the integument
13.5%
Abnormality of the ear
10.8%
Abnormality of limbs
5.4%
Abnormality of the cardiovascular system
5.4%
Abnormality of blood and blood-forming tissues
2.7%
Abnormality of prenatal development or birth
2.7%
Abnormality of the digestive system
2.7%
Abnormality of the respiratory system
2.7%
Constitutional symptom
2.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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