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Gene entry

CHRNE

cholinergic receptor nicotinic epsilon subunit

Chromosome
17
Cytoband
17p13.2
Variants (rsID)
18

CHRNE is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17p13.2). Its official name is “cholinergic receptor nicotinic epsilon subunit”. The reference table lists 18 variants (rsID) for this gene.

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Clinically classified variants

15 reference-table entries with clinical significance.

  • rs139171143Benignsingle nucleotide variantCongenital myasthenic syndrome|Congenital myasthenic syndrome 4A
  • rs151193377Benignsingle nucleotide variantCongenital myasthenic syndrome|Congenital myasthenic syndrome 4A
  • rs4790235Benignsingle nucleotide variantCongenital myasthenic syndrome|Congenital myasthenic syndrome 4A
  • rs55806270Benignsingle nucleotide variantCongenital myasthenic syndrome
  • rs139625105Conflicting interpretationssingle nucleotide variantCongenital myasthenic syndrome|Congenital myasthenic syndrome 4A
  • rs144169073Conflicting interpretationssingle nucleotide variantCongenital myasthenic syndrome 4A|Congenital myasthenic syndrome 4C|Congenital myasthenic syndrome|Congenital myasthenic syndrome 4B|Toe walking
  • rs372635387Conflicting interpretationssingle nucleotide variantCongenital myasthenic syndrome 4B|Congenital myasthenic syndrome 4A|Congenital myasthenic syndrome 4C|Congenital myasthenic syndrome
  • rs747566295Conflicting interpretationssingle nucleotide variantCongenital myasthenic syndrome
  • rs121909512Pathogenicsingle nucleotide variantCongenital myasthenic syndrome 4B|Congenital myasthenic syndrome 4A
  • rs121909513Pathogenicsingle nucleotide variantCongenital myasthenic syndrome 4C|Congenital myasthenic syndrome 4A
  • rs762368691PathogenicDuplicationCongenital myasthenic syndrome|Congenital myasthenic syndrome 4A|Myasthenic syndrome, slow-channel congenital|Abnormality of the musculature|Congenital myasthenic syndrome 4C|Congenital myasthenic syndrome 4A|Congenital myasthenic syndrome 4B
  • rs763258280PathogenicDeletionCongenital myasthenic syndrome 4C|Congenital myasthenic syndrome|Congenital myasthenic syndrome 4A|Congenital myasthenic syndrome 4B|Congenital myasthenic syndrome 4B|Congenital myasthenic syndrome 4A|Congenital myasthenic syndrome 4C
  • rs773526895PathogenicDuplicationCongenital myasthenic syndrome 4C|Congenital myasthenic syndrome|Congenital myasthenic syndrome 4A|Congenital myasthenic syndrome 4C|Congenital myasthenic syndrome 4A|Congenital myasthenic syndrome 4B|Congenital myasthenic syndrome 4B
  • rs879255562PathogenicDeletionCongenital myasthenic syndrome 4C|Congenital myasthenic syndrome 4A|Congenital myasthenic syndrome|Congenital myasthenic syndrome 4B
  • rs140763858Uncertain significancesingle nucleotide variantCongenital myasthenic syndrome 4A|Congenital myasthenic syndrome

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.