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Gene entry

CACNA1S

calcium voltage-gated channel subunit alpha1 S

Chromosome
1
Cytoband
1q32.1
Variants (rsID)
62

CACNA1S is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1q32.1). Its official name is “calcium voltage-gated channel subunit alpha1 S”. The reference table lists 62 variants (rsID) for this gene.

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Clinically classified variants

40 reference-table entries with clinical significance.

  • rs12139527Benignsingle nucleotide variantHypokalemic periodic paralysis, type 1|Hypokalemic periodic paralysis, type 1|Malignant hyperthermia, susceptibility to, 5
  • rs12406479Benignsingle nucleotide variantHypokalemic periodic paralysis, type 1|Hypokalemic periodic paralysis, type 1|Malignant hyperthermia, susceptibility to, 5
  • rs12742169Benignsingle nucleotide variantHypokalemic periodic paralysis, type 1|Hypokalemic periodic paralysis, type 1|Malignant hyperthermia, susceptibility to, 5
  • rs1325310Benignsingle nucleotide variantThyrotoxic periodic paralysis, susceptibility to, 1
  • rs142356235Benignsingle nucleotide variantHypokalemic periodic paralysis, type 1|Malignant hyperthermia, susceptibility to, 5|Hypokalemic periodic paralysis, type 1
  • rs189129662Benignsingle nucleotide variantHypokalemic periodic paralysis, type 1|Malignant hyperthermia, susceptibility to, 5|Hypokalemic periodic paralysis, type 1
  • rs200487405Benignsingle nucleotide variantHypokalemic periodic paralysis, type 1|Hypokalemic periodic paralysis, type 1|Malignant hyperthermia, susceptibility to, 5
  • rs2279944Benignsingle nucleotide variant
  • rs2281845Benignsingle nucleotide variantThyrotoxic periodic paralysis, susceptibility to, 1
  • rs2297904Benignsingle nucleotide variant
  • rs2297905Benignsingle nucleotide variantHypokalemic periodic paralysis, type 1|Hypokalemic periodic paralysis, type 1|Malignant hyperthermia, susceptibility to, 5
  • rs35708442Benignsingle nucleotide variantHypokalemic periodic paralysis, type 1|Hypokalemic periodic paralysis, type 1|Malignant hyperthermia, susceptibility to, 5|Malignant hyperthermia of anesthesia
  • rs35856559Benignsingle nucleotide variantHypokalemic periodic paralysis, type 1|Hypokalemic periodic paralysis, type 1|Malignant hyperthermia, susceptibility to, 5
  • rs373698107Benignsingle nucleotide variantHypokalemic periodic paralysis, type 1|Hypokalemic periodic paralysis, type 1|Malignant hyperthermia, susceptibility to, 5
  • rs376279583Benignsingle nucleotide variantHypokalemic periodic paralysis, type 1|Malignant hyperthermia, susceptibility to, 5|Hypokalemic periodic paralysis, type 1
  • rs3767511Benignsingle nucleotide variant
  • rs4915212Benignsingle nucleotide variantHypokalemic periodic paralysis, type 1|Malignant hyperthermia, susceptibility to, 5|Hypokalemic periodic paralysis, type 1
  • rs79011683Benignsingle nucleotide variantHypokalemic periodic paralysis|Malignant hyperthermia, susceptibility to, 5|Malignant hyperthermia of anesthesia
  • rs116347156Conflicting interpretationssingle nucleotide variantMalignant hyperthermia of anesthesia|Hypokalemic periodic paralysis, type 1|Hypokalemic periodic paralysis, type 1|Malignant hyperthermia, susceptibility to, 5
  • rs139956524Conflicting interpretationssingle nucleotide variantHypokalemic periodic paralysis, type 1|Hypokalemic periodic paralysis, type 1|Malignant hyperthermia, susceptibility to, 5
  • rs141204958Conflicting interpretationssingle nucleotide variantMalignant hyperthermia of anesthesia|Hypokalemic periodic paralysis, type 1|Malignant hyperthermia, susceptibility to, 5|Hypokalemic periodic paralysis, type 1
  • rs145910245Conflicting interpretationssingle nucleotide variantMalignant hyperthermia, susceptibility to, 1|Hypokalemic periodic paralysis, type 1|Malignant hyperthermia, susceptibility to, 5|Malignant hyperthermia, susceptibility to, 5
  • rs150590855Conflicting interpretationssingle nucleotide variantHypokalemic periodic paralysis, type 1|Malignant hyperthermia, susceptibility to, 5|Malignant hyperthermia, susceptibility to, 5|Hypokalemic periodic paralysis, type 1
  • rs200665694Conflicting interpretationssingle nucleotide variantHypokalemic periodic paralysis, type 1|Hypokalemic periodic paralysis, type 1|Malignant hyperthermia, susceptibility to, 5
  • rs200848930Conflicting interpretationssingle nucleotide variantHypokalemic periodic paralysis|Malignant hyperthermia of anesthesia|Malignant hyperthermia, susceptibility to, 5|Hypokalemic periodic paralysis, type 1
  • rs201784750Conflicting interpretationssingle nucleotide variantHypokalemic periodic paralysis, type 1|Hypokalemic periodic paralysis, type 1|Malignant hyperthermia, susceptibility to, 5
  • rs538625530Conflicting interpretationssingle nucleotide variantMalignant hyperthermia of anesthesia|Hypokalemic periodic paralysis|Malignant hyperthermia, susceptibility to, 5|Hypokalemic periodic paralysis, type 1
  • rs80338779Conflicting interpretationssingle nucleotide variantHypokalemic periodic paralysis, type 1|Hypokalemic periodic paralysis, type 1|Malignant hyperthermia, susceptibility to, 5
  • rs1800559Drug responsesingle nucleotide variantMalignant hyperthermia, susceptibility to, 5|sevoflurane response - Toxicity|succinylcholine response - Toxicity|halothane response - Toxicity|methoxyflurane response - Toxicity|Malignant hyperthermia, susceptibility to, 5|Hypokalemic periodic paralysis, type 1|enflurane response - Toxicity|isoflurane response - Toxicity
  • rs139373152Likely benignsingle nucleotide variantMalignant hyperthermia, susceptibility to, 5|Hypokalemic periodic paralysis, type 1
  • rs267606698Likely pathogenicsingle nucleotide variantHypokalemic periodic paralysis, type 1
  • rs2297902Pathogenicsingle nucleotide variantHypokalemic periodic paralysis, type 1
  • rs28930068Pathogenicsingle nucleotide variantHypokalemic periodic paralysis, type 1|Malignant hyperthermia, susceptibility to, 5|Hypokalemic periodic paralysis, type 1
  • rs28930069Pathogenicsingle nucleotide variantHypokalemic periodic paralysis, type 1|Hypokalemic periodic paralysis, type 1|Malignant hyperthermia, susceptibility to, 5
  • rs797045031Pathogenicsingle nucleotide variantHypokalemic periodic paralysis, type 1|Hypokalemic periodic paralysis, type 1|Malignant hyperthermia, susceptibility to, 5
  • rs80338777Pathogenicsingle nucleotide variantHypokalemic periodic paralysis, type 1|Malignant hyperthermia, susceptibility to, 5|Hypokalemic periodic paralysis, type 1
  • rs146885451Uncertain significancesingle nucleotide variantHypokalemic periodic paralysis, type 1|Malignant hyperthermia, susceptibility to, 5
  • rs199758244Uncertain significancesingle nucleotide variantMalignant hyperthermia, susceptibility to, 5|Hypokalemic periodic paralysis, type 1
  • rs200034567Uncertain significancesingle nucleotide variantHypokalemic periodic paralysis, type 1|Malignant hyperthermia, susceptibility to, 5
  • rs80338778Not classifiedsingle nucleotide variantHypokalemic periodic paralysis, type 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.