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Gene entry

SCN4A

sodium voltage-gated channel alpha subunit 4

Chromosome
17
Cytoband
17q23.3
Variants (rsID)
44

SCN4A is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17q23.3). Its official name is “sodium voltage-gated channel alpha subunit 4”. The reference table lists 44 variants (rsID) for this gene.

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Clinically classified variants

29 reference-table entries with clinical significance.

  • rs111926172Benignsingle nucleotide variantPotassium-aggravated myotonia|Congenital myasthenic syndrome 16|Paramyotonia congenita of Von Eulenburg|Hypokalemic periodic paralysis, type 2|Hyperkalemic periodic paralysis
  • rs147352060Benignsingle nucleotide variantHyperkalemic periodic paralysis
  • rs199827271Benignsingle nucleotide variantParamyotonia congenita of Von Eulenburg|Hypokalemic periodic paralysis, type 2|Congenital myasthenic syndrome 16|Potassium-aggravated myotonia|Hyperkalemic periodic paralysis
  • rs2727278Benignsingle nucleotide variantHypokalemic periodic paralysis, type 2|Potassium-aggravated myotonia|Paramyotonia congenita of Von Eulenburg|Hyperkalemic periodic paralysis|Congenital myasthenic syndrome 16
  • rs41280102Benignsingle nucleotide variantHyperkalemic periodic paralysis|Potassium-aggravated myotonia|Congenital myasthenic syndrome 16|Paramyotonia congenita of Von Eulenburg|Hypokalemic periodic paralysis, type 2
  • rs41280110Benignsingle nucleotide variantCongenital myasthenic syndrome 16|Hypokalemic periodic paralysis, type 2|Potassium-aggravated myotonia|Paramyotonia congenita of Von Eulenburg|Hypokalemic periodic paralysis, type 2|Congenital myasthenic syndrome 16|Paramyotonia congenita of Von Eulenburg|Potassium-aggravated myotonia|Hyperkalemic periodic paralysis|Hyperkalemic periodic paralysis
  • rs62070884Benignsingle nucleotide variantHyperkalemic periodic paralysis|Congenital myasthenic syndrome 16|Paramyotonia congenita of Von Eulenburg|Potassium-aggravated myotonia|Hypokalemic periodic paralysis, type 2|Joubert syndrome 17
  • rs7218917Benignsingle nucleotide variantPotassium-aggravated myotonia|Paramyotonia congenita of Von Eulenburg|Hypokalemic periodic paralysis, type 2|Congenital myasthenic syndrome 16|Hyperkalemic periodic paralysis
  • rs150158100Conflicting interpretationssingle nucleotide variantCongenital myasthenic syndrome 16|Hyperkalemic periodic paralysis|Potassium-aggravated myotonia|Paramyotonia congenita of Von Eulenburg|Hypokalemic periodic paralysis, type 2
  • rs187055074Conflicting interpretationssingle nucleotide variantHyperkalemic periodic paralysis
  • rs187401185Conflicting interpretationssingle nucleotide variantPotassium-aggravated myotonia|Hypokalemic periodic paralysis, type 2|Congenital myasthenic syndrome 16|Paramyotonia congenita of Von Eulenburg|Hypokalemic periodic paralysis, type 2|Congenital myasthenic syndrome 16|Paramyotonia congenita of Von Eulenburg|Potassium-aggravated myotonia|Hyperkalemic periodic paralysis|Hyperkalemic periodic paralysis
  • rs191547933Conflicting interpretationssingle nucleotide variantHyperkalemic periodic paralysis
  • rs201379704Conflicting interpretationssingle nucleotide variantCongenital myasthenic syndrome 16|Hyperkalemic periodic paralysis
  • rs202106192Conflicting interpretationssingle nucleotide variantPotassium-aggravated myotonia|Hypokalemic periodic paralysis, type 2|Congenital myasthenic syndrome 16|Paramyotonia congenita of Von Eulenburg|Hyperkalemic periodic paralysis
  • rs371914255Conflicting interpretationssingle nucleotide variantPotassium-aggravated myotonia|Paramyotonia congenita of Von Eulenburg|Congenital myasthenic syndrome 16|Hypokalemic periodic paralysis, type 2|Hyperkalemic periodic paralysis
  • rs373150395Conflicting interpretationssingle nucleotide variantHyperkalemic periodic paralysis
  • rs375607705Conflicting interpretationssingle nucleotide variantCongenital myasthenic syndrome 16|Paramyotonia congenita of Von Eulenburg|Hyperkalemic periodic paralysis|Potassium-aggravated myotonia|Hypokalemic periodic paralysis, type 2
  • rs527236149Conflicting interpretationssingle nucleotide variantHypokalemic periodic paralysis, type 2|Hyperkalemic periodic paralysis|Paramyotonia congenita of Von Eulenburg|Congenital myasthenic syndrome 16|Potassium-aggravated myotonia
  • rs759982229Conflicting interpretationssingle nucleotide variantParamyotonia congenita of Von Eulenburg|Congenital myasthenic syndrome 16|Potassium-aggravated myotonia|Hypokalemic periodic paralysis, type 2|Hyperkalemic periodic paralysis
  • rs121908544Pathogenicsingle nucleotide variantParamyotonia congenita of Von Eulenburg|Hyperkalemic periodic paralysis|Hypokalemic periodic paralysis, type 1
  • rs121908547Pathogenicsingle nucleotide variantParamyotonia congenita of Von Eulenburg|Hyperkalemic periodic paralysis|6 conditions|SCN4A-related non-dystrophic myotonia
  • rs121908552Pathogenicsingle nucleotide variantPotassium-aggravated myotonia|Hyperkalemic periodic paralysis|6 conditions|SCN4A-related non-dystrophic myotonia
  • rs527236150Pathogenicsingle nucleotide variantHypokalemic periodic paralysis, type 2|Hyperkalemic periodic paralysis
  • rs80338792Pathogenicsingle nucleotide variantPotassium-aggravated myotonia|Paramyotonia congenita of Von Eulenburg|Hyperkalemic periodic paralysis|SCN4A-related non-dystrophic myotonia
  • rs80338956Pathogenicsingle nucleotide variantParamyotonia congenita of Von Eulenburg|Hyperkalemic periodic paralysis|SCN4A-related non-dystrophic myotonia
  • rs80338957Pathogenicsingle nucleotide variantHyperkalemic periodic paralysis|Paramyotonia congenita/hyperkalemic periodic paralysis|6 conditions|Sotos syndrome 1|Hypokalemic periodic paralysis, type 2
  • rs80338958Pathogenicsingle nucleotide variantParamyotonia congenita/hyperkalemic periodic paralysis|Hyperkalemic periodic paralysis|Focal-onset seizure
  • rs118047588Uncertain significancesingle nucleotide variantHyperkalemic periodic paralysis|6 conditions
  • rs201152347Uncertain significancesingle nucleotide variantHyperkalemic periodic paralysis

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.