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Gene entry

CLCN1

chloride voltage-gated channel 1

Chromosome
7
Cytoband
7q34
Variants (rsID)
29

CLCN1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 7 (region 7q34). Its official name is “chloride voltage-gated channel 1”. The reference table lists 29 variants (rsID) for this gene.

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Clinically classified variants

22 reference-table entries with clinical significance.

  • rs140205115Benignsingle nucleotide variantBatten-Turner congenital myopathy|Congenital myotonia, autosomal recessive form|Congenital myotonia, autosomal dominant form
  • rs146160029Benignsingle nucleotide variantBatten-Turner congenital myopathy|Congenital myotonia, autosomal recessive form|Congenital myotonia, autosomal dominant form
  • rs2272251Benignsingle nucleotide variantBatten-Turner congenital myopathy|Congenital myotonia, autosomal dominant form|Congenital myotonia, autosomal recessive form|Congenital myotonia, autosomal recessive form|Congenital myotonia, autosomal dominant form
  • rs41276054Benignsingle nucleotide variantBatten-Turner congenital myopathy|Congenital myotonia, autosomal dominant form|Congenital myotonia, autosomal recessive form
  • rs6962852Benignsingle nucleotide variantBatten-Turner congenital myopathy|Congenital myotonia, autosomal dominant form|Congenital myotonia, autosomal dominant form|Congenital myotonia, autosomal recessive form|Congenital myotonia, autosomal recessive form
  • rs118066140Conflicting interpretationssingle nucleotide variantBatten-Turner congenital myopathy|Congenital myotonia, autosomal recessive form|Congenital myotonia, autosomal recessive form|Congenital myotonia, autosomal dominant form
  • rs202119213Conflicting interpretationssingle nucleotide variantBatten-Turner congenital myopathy|Congenital myotonia, autosomal dominant form|Congenital myotonia, autosomal recessive form
  • rs55960271Conflicting interpretationssingle nucleotide variantCongenital myotonia, autosomal dominant form|Congenital myotonia, autosomal recessive form|Batten-Turner congenital myopathy|Congenital myotonia, autosomal recessive form|Congenital myotonia, autosomal dominant form|EMG: myopathic abnormalities|Myopathy|Toe walking|Cerebral palsy|Abnormality of the musculature
  • rs121912799Pathogenicsingle nucleotide variantCongenital myotonia, autosomal recessive form|Congenital myotonia, autosomal dominant form|Congenital myotonia, autosomal dominant form|Congenital myotonia, autosomal recessive form|Toe walking|CLCN1-related disorder
  • rs201714423Pathogenicsingle nucleotide variantCongenital myotonia, autosomal recessive form|Congenital myotonia, autosomal dominant form
  • rs202217420Pathogenicsingle nucleotide variantCongenital myotonia, autosomal dominant form|Congenital myotonia, autosomal recessive form|Congenital myotonia, autosomal recessive form
  • rs776073429Pathogenicsingle nucleotide variantBatten-Turner congenital myopathy|Congenital myotonia, autosomal dominant form|Congenital myotonia, autosomal recessive form
  • rs80356685Pathogenicsingle nucleotide variantCongenital myotonia, autosomal dominant form|Congenital myotonia, autosomal recessive form
  • rs80356687Pathogenicsingle nucleotide variantCongenital myotonia, autosomal dominant form|Congenital myotonia, autosomal recessive form
  • rs80356692Pathogenicsingle nucleotide variantCongenital myotonia, autosomal dominant form|Congenital myotonia, autosomal recessive form|Congenital myotonia, autosomal recessive form
  • rs80356701Pathogenicsingle nucleotide variantBatten-Turner congenital myopathy|Congenital myotonia, autosomal recessive form|Congenital myotonia, autosomal dominant form|Congenital myotonia, autosomal dominant form
  • rs80356703Pathogenicsingle nucleotide variantCongenital myotonia, autosomal dominant form|Congenital myotonia, autosomal recessive form
  • rs140536210Uncertain significancesingle nucleotide variantCongenital myotonia, autosomal dominant form|Congenital myotonia, autosomal recessive form|Batten-Turner congenital myopathy
  • rs142539932Uncertain significancesingle nucleotide variantBatten-Turner congenital myopathy|Congenital myotonia, autosomal dominant form|Congenital myotonia, autosomal recessive form
  • rs189963844Uncertain significancesingle nucleotide variantCongenital myotonia, autosomal recessive form|Congenital myotonia, autosomal dominant form
  • rs80356686Uncertain significancesingle nucleotide variantCongenital myotonia, autosomal dominant form|Congenital myotonia, autosomal recessive form
  • rs80356706Uncertain significancesingle nucleotide variantCongenital myotonia, autosomal recessive form|Batten-Turner congenital myopathy|Congenital myotonia, autosomal dominant form|Congenital myotonia, autosomal recessive form

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.