CLIC5 Chromosome 6
Chloride intracellular channel 5
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What This Gene Does
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. [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
Chloride intracellular channels
Locus Type
gene with protein product
Location
6p21.1
Ensembl
ENSG00000112782
Associated Conditions (7)
CLIC5-related disorder
Thyroid cancer
nonmedullary
1
Autosomal recessive nonsyndromic hearing loss 103
Hearing loss
autosomal recessive
Key Variants
RS117204561
Conflicting classifications of pathogenicity
CLIC5-related disorder, CLIC5-related disorder
Health Risk
RS138254725
Conflicting classifications of pathogenicity
Health Risk
RS189893797
Conflicting classifications of pathogenicity
Health Risk
RS199626373
Conflicting classifications of pathogenicity
Thyroid cancer, nonmedullary, 1
Health Risk
RS199808624
Conflicting classifications of pathogenicity
CLIC5-related disorder, CLIC5-related disorder
Health Risk
RS202022202
Conflicting classifications of pathogenicity
CLIC5-related disorder, CLIC5-related disorder
Health Risk
RS367749546
Conflicting classifications of pathogenicity
CLIC5-related disorder, CLIC5-related disorder
Health Risk
RS564438778
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 103, CLIC5-related disorder, Autosomal recessive nonsyndromic hearing loss 103
Health Risk
RS759950763
Conflicting classifications of pathogenicity
Health Risk
RS1043716893
Likely pathogenic
Hearing loss, autosomal recessive, Hearing loss
Health Risk
RS606231308
Pathogenic
Autosomal recessive nonsyndromic hearing loss 103, Autosomal recessive nonsyndromic hearing loss 103
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS117204561 | Health Risk | Conflicting classifications of pathogenicity | CLIC5-related disorder, CLIC5-related disorder |
| RS138254725 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS189893797 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199626373 | Health Risk | Conflicting classifications of pathogenicity | Thyroid cancer, nonmedullary, 1 |
| RS199808624 | Health Risk | Conflicting classifications of pathogenicity | CLIC5-related disorder, CLIC5-related disorder |
| RS202022202 | Health Risk | Conflicting classifications of pathogenicity | CLIC5-related disorder, CLIC5-related disorder |
| RS367749546 | Health Risk | Conflicting classifications of pathogenicity | CLIC5-related disorder, CLIC5-related disorder |
| RS564438778 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 103, CLIC5-related disorder, Autosomal recessive nonsyndromic hearing loss 103 |
| RS759950763 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1043716893 | Health Risk | Likely pathogenic | Hearing loss, autosomal recessive, Hearing loss |
| RS606231308 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 103, Autosomal recessive nonsyndromic hearing loss 103 |