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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

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
5
Likely pathogenic
0
VUS
1,079
Likely benign
620
Benign
568

Patient phenotypes

Proportions of phenotypes among 5 patients carrying pathogenic or likely pathogenic variants on CLIC5 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
80%
Abnormality of the nervous system
60%
Abnormality of the eye
40%
Abnormality of blood and blood-forming tissues
20%
Abnormality of limbs
20%
Abnormality of the cardiovascular system
20%
Abnormality of the ear
20%
Abnormality of the genitourinary system
20%
Abnormality of the immune system
20%
Abnormality of the integument
20%
Abnormality of the musculoskeletal system
20%
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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