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Gene entry

NALCN

sodium leak channel, non-selective

Chromosome
13
Cytoband
13q32.3-q33.1
Variants (rsID)
111

NALCN is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 13 (region 13q32.3-q33.1). Its official name is “sodium leak channel, non-selective”. The reference table lists 111 variants (rsID) for this gene.

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Clinically classified variants

6 reference-table entries with clinical significance.

  • rs11616341Benignsingle nucleotide variant
  • rs16958350Benignsingle nucleotide variantCongenital contractures of the limbs and face, hypotonia, and developmental delay
  • rs17677552Benignsingle nucleotide variantHypotonia, infantile, with psychomotor retardation and characteristic facies 1|Congenital contractures of the limbs and face, hypotonia, and developmental delay
  • rs76776920Benignsingle nucleotide variant
  • rs786203988Pathogenicsingle nucleotide variantCongenital contractures of the limbs and face, hypotonia, and developmental delay
  • rs869025188PathogenicDeletionHypotonia, infantile, with psychomotor retardation and characteristic facies 1

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.