Gene entry
CLCNKB
chloride voltage-gated channel Kb
- Chromosome
- 1
- Cytoband
- 1p36.13
- Variants (rsID)
- 13
CLCNKB is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p36.13). Its official name is “chloride voltage-gated channel Kb”. The reference table lists 13 variants (rsID) for this gene.
Clinically classified variants
7 reference-table entries with clinical significance.
- rs143663847Benignsingle nucleotide variantMitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
- rs5252Benignsingle nucleotide variant
- rs5257Benignsingle nucleotide variantBartter disease type 4B|Bartter disease type 3
- rs121909133Conflicting interpretationssingle nucleotide variantBartter disease type 3
- rs121909136Pathogenicsingle nucleotide variantBartter syndrome, type 3, with hypocalciuria|Bartter disease type 3|Bartter disease type 4B
- rs370019965Uncertain significancesingle nucleotide variant
- rs375288190Uncertain significancesingle nucleotide variant
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.