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CLCNKA

Synonyms
CLCK1, ClC-K1, hClC-Ka
External resources
Summary
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.

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
32
Likely pathogenic
0
VUS
13,202
Likely benign
2,565
Benign
12

Patient phenotypes

Proportions of phenotypes among 32 patients carring pathogenic or likely pathogenic variants on CLCNKA gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
31.3%
Abnormality of the ear
28.1%
Abnormality of the eye
25%
Abnormality of the cardiovascular system
21.9%
Abnormality of the musculoskeletal system
21.9%
Abnormality of head or neck
18.8%
Abnormality of the genitourinary system
18.8%
Growth abnormality
18.8%
Abnormality of limbs
9.4%
Abnormality of the integument
9.4%
Abnormality of the endocrine system
6.3%
Abnormality of the immune system
6.3%
Abnormality of blood and blood-forming tissues
3.1%
Abnormality of prenatal development or birth
3.1%
Abnormality of the digestive system
3.1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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