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Gene entry

CACNA1A

calcium voltage-gated channel subunit alpha1 A

Chromosome
19
Cytoband
19p13.13
Variants (rsID)
121

CACNA1A is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 19 (region 19p13.13). Its official name is “calcium voltage-gated channel subunit alpha1 A”. The reference table lists 121 variants (rsID) for this gene.

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Clinically classified variants

27 reference-table entries with clinical significance.

  • rs16016Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Episodic ataxia type 2|Developmental and epileptic encephalopathy, 42
  • rs16019Benignsingle nucleotide variantDevelopmental and epileptic encephalopathy, 42|Episodic ataxia type 2|History of neurodevelopmental disorder
  • rs16022Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Developmental and epileptic encephalopathy, 42|Episodic ataxia type 2
  • rs16023Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Developmental and epileptic encephalopathy, 42|Episodic ataxia type 2
  • rs16030Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Episodic ataxia type 2|Developmental and epileptic encephalopathy, 42
  • rs199793367Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Episodic ataxia type 2|Developmental and epileptic encephalopathy, 42
  • rs201612257Benignsingle nucleotide variantEpisodic ataxia type 2|Developmental and epileptic encephalopathy, 42
  • rs2248069Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Episodic ataxia type 2|Developmental and epileptic encephalopathy, 42|Developmental and epileptic encephalopathy, 42|Episodic ataxia type 2|Migraine, familial hemiplegic, 1|Spinocerebellar ataxia type 6
  • rs41276886Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Episodic ataxia type 2|Developmental and epileptic encephalopathy, 42|Episodic ataxia type 2
  • rs749357610Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Episodic ataxia type 2|Developmental and epileptic encephalopathy, 42
  • rs121908242Conflicting interpretationssingle nucleotide variantEpisodic ataxia type 2|Developmental and epileptic encephalopathy, 42|Episodic ataxia type 2
  • rs121908247Conflicting interpretationssingle nucleotide variantSpinocerebellar ataxia type 6|Chronic and progressive ataxia|Enlarged cisterna magna|Global developmental delay|Episodic ataxia type 2|Developmental and epileptic encephalopathy, 42|Episodic ataxia type 2|History of neurodevelopmental disorder|Ataxia _ Neurologic (child onset)|Non-progressive congenital cerebellar ataxia|Neurodevelopmental delay
  • rs16024Conflicting interpretationssingle nucleotide variantInborn genetic diseases|Developmental and epileptic encephalopathy, 42|History of neurodevelopmental disorder|Episodic ataxia type 2|Developmental and epileptic encephalopathy, 42|Intellectual disability
  • rs184723350Conflicting interpretationssingle nucleotide variantEpisodic ataxia type 2|Developmental and epileptic encephalopathy, 42
  • rs187393245Conflicting interpretationssingle nucleotide variantEpisodic ataxia type 2|Developmental and epileptic encephalopathy, 42|History of neurodevelopmental disorder
  • rs199886234Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|Episodic ataxia type 2|Episodic ataxia type 2|Developmental and epileptic encephalopathy, 42
  • rs201200430Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|Episodic ataxia type 2|Developmental and epileptic encephalopathy, 42
  • rs374307014Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|Developmental and epileptic encephalopathy, 42|Episodic ataxia type 2
  • rs374749004Conflicting interpretationssingle nucleotide variantDevelopmental and epileptic encephalopathy, 42|Episodic ataxia type 2
  • rs375628894Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|Episodic ataxia type 2|Developmental and epileptic encephalopathy, 42
  • rs751675055Conflicting interpretationssingle nucleotide variantEpisodic ataxia type 2|Developmental and epileptic encephalopathy, 42
  • rs756972061Conflicting interpretationssingle nucleotide variantEpisodic ataxia type 2|Developmental and epileptic encephalopathy, 42
  • rs757291476Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|Episodic ataxia type 2|Developmental and epileptic encephalopathy, 42
  • rs121908228Likely pathogenicsingle nucleotide variantEpisodic ataxia type 2|Episodic ataxia type 2|Developmental and epileptic encephalopathy, 42
  • rs121908220Pathogenicsingle nucleotide variantMigraine, familial hemiplegic, 1
  • rs794727411Pathogenicsingle nucleotide variantEpisodic ataxia type 2|Migraine, familial hemiplegic, 1|Developmental and epileptic encephalopathy, 42|Inborn genetic diseases|Spinocerebellar ataxia type 6|Migraine|Migraine, familial hemiplegic, 1|Episodic ataxia type 2|Episodic ataxia type 2|Developmental and epileptic encephalopathy, 42|Episodic ataxia type 2|Spinocerebellar ataxia type 6|Migraine, familial hemiplegic, 1|Developmental and epileptic encephalopathy, 52
  • rs201789073Uncertain significancesingle nucleotide variantDevelopmental and epileptic encephalopathy, 42|Episodic ataxia type 2

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.