CLCC1 Chromosome 1
Chloride channel CLIC like 1
Upload your DNA to see your personal genotypes for variants in CLCC1.
What This Gene Does
Enables chloride channel activity. Involved in endoplasmic reticulum calcium ion homeostasis. Located in endoplasmic reticulum membrane and mitochondria-associated endoplasmic reticulum membrane contact site. Implicated in retinitis pigmentosa 32. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Tetraspan junctional complex superfamily
Locus Type
gene with protein product
Location
1p13.3
Ensembl
ENSG00000121940
Associated Conditions (2)
Retinitis pigmentosa 32
Retinal dystrophy
Key Variants
RS111447204
Conflicting classifications of pathogenicity
Health Risk
RS116874952
Conflicting classifications of pathogenicity
Health Risk
RS144374978
Conflicting classifications of pathogenicity
Health Risk
RS147516957
Conflicting classifications of pathogenicity
Health Risk
RS151247614
Conflicting classifications of pathogenicity
Health Risk
RS201503270
Conflicting classifications of pathogenicity
Health Risk
RS760196687
Conflicting classifications of pathogenicity
Health Risk
RS750180668
Pathogenic/Likely pathogenic
Retinitis pigmentosa 32, Retinal dystrophy, Retinitis pigmentosa 32
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS111447204 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS116874952 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144374978 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS147516957 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS151247614 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201503270 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS760196687 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS750180668 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 32, Retinal dystrophy, Retinitis pigmentosa 32 |