Gene entry
CACNA1C
calcium voltage-gated channel subunit alpha1 C
- Chromosome
- 12
- Cytoband
- 12p13.33
- Variants (rsID)
- 289
CACNA1C is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 12 (region 12p13.33). Its official name is “calcium voltage-gated channel subunit alpha1 C”. The reference table lists 289 variants (rsID) for this gene.
Clinically classified variants
41 reference-table entries with clinical significance.
- rs1051360Benignsingle nucleotide variantLong QT syndrome|Cardiovascular phenotype|History of neurodevelopmental disorder
- rs1051375Benignsingle nucleotide variantCardiovascular phenotype|History of neurodevelopmental disorder|Long QT syndrome|Timothy syndrome
- rs10848683Benignsingle nucleotide variantTimothy syndrome
- rs112414325Benignsingle nucleotide variantShort QT syndrome|Cardiovascular phenotype|History of neurodevelopmental disorder|Long QT syndrome
- rs112532048Benignsingle nucleotide variantCardiovascular phenotype|History of neurodevelopmental disorder|Hypertrophic cardiomyopathy|Long QT syndrome
- rs114851656Benignsingle nucleotide variant
- rs215976Benignsingle nucleotide variantCardiovascular phenotype|History of neurodevelopmental disorder|Long QT syndrome
- rs216008Benignsingle nucleotide variantCardiovascular phenotype|History of neurodevelopmental disorder|Long QT syndrome|Timothy syndrome
- rs369267978Benignsingle nucleotide variantLong QT syndrome
- rs369673473Benignsingle nucleotide variantLong QT syndrome|Cardiovascular phenotype
- rs111606207Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|History of neurodevelopmental disorder|Long QT syndrome
- rs121912775Conflicting interpretationssingle nucleotide variantBrugada syndrome 3|Brugada syndrome|Timothy syndrome|Cardiovascular phenotype|Long QT syndrome|Long QT syndrome 1
- rs141633456Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Long QT syndrome
- rs184684058Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|History of neurodevelopmental disorder|Long QT syndrome
- rs186741807Conflicting interpretationssingle nucleotide variantCongestive heart failure|Long QT syndrome
- rs193922616Conflicting interpretationssingle nucleotide variantCardiac arrhythmia|Long QT syndrome
- rs199538058Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|History of neurodevelopmental disorder|Long QT syndrome
- rs199694744Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Long QT syndrome
- rs201090446Conflicting interpretationssingle nucleotide variantTimothy syndrome|Cardiovascular phenotype|History of neurodevelopmental disorder|Long QT syndrome|Cardiac arrhythmia
- rs201258230Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|History of neurodevelopmental disorder|Long QT syndrome
- rs201392574Conflicting interpretationssingle nucleotide variantLong QT syndrome|Cardiovascular phenotype
- rs201756421Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|History of neurodevelopmental disorder|Long QT syndrome
- rs369438564Conflicting interpretationssingle nucleotide variantLong QT syndrome
- rs370576211Conflicting interpretationssingle nucleotide variantLong QT syndrome
- rs371831239Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Long QT syndrome
- rs372702466Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|Long QT syndrome
- rs375534041Conflicting interpretationssingle nucleotide variantLong QT syndrome
- rs398123517Conflicting interpretationssingle nucleotide variantLong QT syndrome
- rs41276706Conflicting interpretationssingle nucleotide variantLong QT syndrome
- rs529345041Conflicting interpretationssingle nucleotide variantLong QT syndrome
- rs56394008Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|History of neurodevelopmental disorder|Long QT syndrome
- rs575583988Conflicting interpretationsMicrosatelliteLong QT syndrome|History of neurodevelopmental disorder|Timothy syndrome
- rs587780881Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Long QT syndrome
- rs750835120Conflicting interpretationssingle nucleotide variantLong QT syndrome
- rs756364065Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Timothy syndrome|Brugada syndrome|Long QT syndrome
- rs757966245Conflicting interpretationssingle nucleotide variantTimothy syndrome|Brugada syndrome|Long QT syndrome
- rs370145265Likely benignsingle nucleotide variantLong QT syndrome
- rs370630496Likely benignsingle nucleotide variantLong QT syndrome
- rs786205748Pathogenicsingle nucleotide variantLong QT syndrome|Long qt syndrome 8|Timothy syndrome
- rs79891110Pathogenicsingle nucleotide variantTimothy syndrome|Congenital long QT syndrome|Long QT syndrome|CACNA1C-Related Disorders
- rs80315385Pathogenicsingle nucleotide variantTimothy syndrome|Congenital long QT syndrome|Long QT syndrome
Other listed variants
- rs215986
- rs215992
- rs215994
- rs216013
- rs216029
- rs723672
- rs740502
- rs740728
- rs758231
- rs758723
- rs765124
- rs886898
- rs917365
- rs994900
- rs1004207
- rs1006564
- rs1006737
- rs1009281
- rs1024582
- rs1076344
- rs1108385
- rs1558322
- rs1860102
- rs2007044
- rs2010932
- rs2098027
- rs2108570
- rs2159100
- rs2215095
- rs2238014
- rs2238022
- rs2238032
- rs2238034
- rs2238040
- rs2238051
- rs2238057
- rs2238076
- rs2238095
- rs2239025
- rs2239027
- rs2239030
- rs2239050
- rs2239063
- rs2239073
- rs2239074
- rs2239089
- rs2239090
- rs2239095
- rs2239097
- rs2239099
- rs2239101
- rs2239109
- rs2239128
- rs2270371
- rs2283271
- rs2283292
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.