CLCN6 Chromosome 1
Cl-/H+ antiporter 6
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What This Gene Does
This gene encodes a member of the voltage-dependent chloride channel protein family. Members of this family can function as either chloride channels or antiporters. This protein is primarily localized to late endosomes and functions as a chloride/proton antiporter. Alternate splicing results in both coding and non-coding variants. Additional alternately spliced variants have been described but their full-length structure is unknown. [provided by RefSeq, Mar 2012]
Gene Info
Gene Group
CLC chloride channel and transporter family
Locus Type
gene with protein product
Location
1p36.22
Ensembl
ENSG00000011021
Associated Conditions (6)
12 conditions
Neurodegeneration
childhood-onset
with hypotonia
respiratory insufficiency
and brain imaging abnormalities
Key Variants
RS1644918844
Conflicting classifications of pathogenicity
12 conditions, Neurodegeneration, childhood-onset
Health Risk
RS376070186
Conflicting classifications of pathogenicity
Health Risk
RS568416833
Conflicting classifications of pathogenicity
Health Risk
RS759622308
Conflicting classifications of pathogenicity
Health Risk
RS773042242
Conflicting classifications of pathogenicity
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1644918844 | Health Risk | Conflicting classifications of pathogenicity | 12 conditions, Neurodegeneration, childhood-onset |
| RS376070186 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS568416833 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS759622308 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS773042242 | Health Risk | Conflicting classifications of pathogenicity | — |