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CLIC5

Synonyms
DFNB102, DFNB103, MST130, MSTP130
External resources
Summary
This gene encodes a member of the chloride intracellular channel (CLIC) family of chloride ion channels. The encoded protein associates with actin-based cytoskeletal structures and may play a role in multiple processes including hair cell stereocilia formation, myoblast proliferation and glomerular podocyte and endothelial cell maintenance. Alternatively spliced transcript variants encoding multiple isoforms have been observed 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
3
Likely pathogenic
0
VUS
735
Likely benign
2,142
Benign
87

Patient phenotypes

Proportions of phenotypes among 3 patients carring pathogenic or likely pathogenic variants on CLIC5 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
100%
Abnormality of the nervous system
66.7%
Abnormality of blood and blood-forming tissues
33.3%
Abnormality of limbs
33.3%
Abnormality of the cardiovascular system
33.3%
Abnormality of the ear
33.3%
Abnormality of the eye
33.3%
Abnormality of the genitourinary system
33.3%
Abnormality of the immune system
33.3%
Abnormality of the integument
33.3%
Abnormality of the musculoskeletal system
33.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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