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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

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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