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Gene entry

CACNA1H

calcium voltage-gated channel subunit alpha1 H

Chromosome
16
Cytoband
16p13.3
Variants (rsID)
44

CACNA1H is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 16 (region 16p13.3). Its official name is “calcium voltage-gated channel subunit alpha1 H”. The reference table lists 44 variants (rsID) for this gene.

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Clinically classified variants

17 reference-table entries with clinical significance.

  • rs1054645Benignsingle nucleotide variantEpilepsy, childhood absence, susceptibility to, 6|Idiopathic generalized epilepsy|Hyperaldosteronism, familial, type IV
  • rs145376050Benignsingle nucleotide variantIdiopathic generalized epilepsy|Hyperaldosteronism, familial, type IV
  • rs2753325Benignsingle nucleotide variantHyperaldosteronism, familial, type IV|Idiopathic generalized epilepsy
  • rs3751664Benignsingle nucleotide variantIdiopathic generalized epilepsy|Hyperaldosteronism, familial, type IV
  • rs56885166Benignsingle nucleotide variantHyperaldosteronism, familial, type IV|Idiopathic generalized epilepsy
  • rs57633676Benignsingle nucleotide variantIdiopathic generalized epilepsy|Hyperaldosteronism, familial, type IV
  • rs58142268Benignsingle nucleotide variantHyperaldosteronism, familial, type IV|Idiopathic generalized epilepsy
  • rs59091981Benignsingle nucleotide variantHyperaldosteronism, familial, type IV|Idiopathic generalized epilepsy
  • rs59650398Benignsingle nucleotide variantHyperaldosteronism, familial, type IV|Idiopathic generalized epilepsy|Epilepsy, childhood absence, susceptibility to, 6
  • rs59709076Benignsingle nucleotide variantHyperaldosteronism, familial, type IV|Idiopathic generalized epilepsy
  • rs60593994Benignsingle nucleotide variantEpilepsy, childhood absence, susceptibility to, 6|Hyperaldosteronism, familial, type IV|Idiopathic generalized epilepsy
  • rs200400235Conflicting interpretationssingle nucleotide variantIdiopathic generalized epilepsy|Hyperaldosteronism, familial, type IV
  • rs201651793Conflicting interpretationssingle nucleotide variantHyperaldosteronism, familial, type IV|Idiopathic generalized epilepsy
  • rs57105517Conflicting interpretationssingle nucleotide variantIdiopathic generalized epilepsy|Hyperaldosteronism, familial, type IV
  • rs119454949Uncertain significancesingle nucleotide variantEpilepsy, childhood absence, susceptibility to, 6|Idiopathic generalized epilepsy|Hyperaldosteronism, familial, type IV
  • rs149367557Uncertain significancesingle nucleotide variantIdiopathic generalized epilepsy|Hyperaldosteronism, familial, type IV
  • rs199664795Uncertain significancesingle nucleotide variantIdiopathic generalized epilepsy|Hyperaldosteronism, familial, type IV

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.