Gene entry
CLCN2
chloride voltage-gated channel 2
- Chromosome
- 3
- Cytoband
- 3q27.1
- Variants (rsID)
- 21
CLCN2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3q27.1). Its official name is “chloride voltage-gated channel 2”. The reference table lists 21 variants (rsID) for this gene.
Clinically classified variants
5 reference-table entries with clinical significance.
- rs111656822Benignsingle nucleotide variantLeukoencephalopathy with mild cerebellar ataxia and white matter edema|Epilepsy, idiopathic generalized, susceptibility to, 11
- rs114702742Benignsingle nucleotide variantLeukoencephalopathy with mild cerebellar ataxia and white matter edema|Intellectual disability
- rs2228292Benignsingle nucleotide variantLeukoencephalopathy with mild cerebellar ataxia and white matter edema
- rs61729156Benignsingle nucleotide variantLeukoencephalopathy with mild cerebellar ataxia and white matter edema
- rs71318369Conflicting interpretationssingle nucleotide variantEpilepsy, juvenile myoclonic 8|Leukoencephalopathy with mild cerebellar ataxia and white matter edema|Epilepsy, idiopathic generalized, susceptibility to, 11|Familial hyperaldosteronism type II|Epilepsy, idiopathic generalized, susceptibility to, 11|Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.
