CACNA1C Chromosome 12

Calcium voltage-gated channel subunit alpha1 C
320 variants 320 Health Risk

Upload your DNA to see your personal genotypes for variants in CACNA1C.

What This Gene Does
This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012]
Gene Info
Gene Group
Calcium voltage-gated channel alpha1 subunits
Locus Type
gene with protein product
Location
12p13.33
Ensembl
ENSG00000151067
Associated Conditions (43)
Long QT syndrome
Cardiovascular phenotype
Cerebral palsy
Long QT syndrome 8
Timothy syndrome
intellectual deficiency
Epilepsy
Neurodevelopmental disorder with hypotonia
language delay
and skeletal defects with or without seizures
Brugada syndrome 3
CACNA1C-related disorder
Brugada syndrome
Congestive heart failure
Cardiac arrhythmia
Brugada syndrome (shorter-than-normal QT interval)
Restrictive cardiomyopathy
Ventricular tachycardia
Short QT syndrome
Short QT Syndrome 4
+23 more conditions
Key Variants
RS1009822245
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
Health Risk
RS1048241141
Conflicting classifications of pathogenicity
Long QT syndrome, Cerebral palsy, Long QT syndrome 8
Health Risk
RS1057518301
Conflicting classifications of pathogenicity
Timothy syndrome, Long QT syndrome, Timothy syndrome
Health Risk
RS1057518994
Conflicting classifications of pathogenicity
intellectual deficiency, Epilepsy, Neurodevelopmental disorder with hypotonia
Health Risk
RS1057524804
Conflicting classifications of pathogenicity
Timothy syndrome, Long QT syndrome, Timothy syndrome
Health Risk
RS1064796583
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
Health Risk
RS111442547
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
Health Risk
RS111606207
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Long QT syndrome, Brugada syndrome 3
Health Risk
RS113157354
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
Health Risk
RS1131653
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
Health Risk
RS113929946
Conflicting classifications of pathogenicity
Long QT syndrome, Cardiovascular phenotype, CACNA1C-related disorder
Health Risk
RS114851656
Conflicting classifications of pathogenicity
Brugada syndrome 3, Neurodevelopmental disorder with hypotonia, language delay
Health Risk
All Variants (320)
RSID Category Clinical Significance Conditions
RS764298283 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 8, Long QT syndrome
RS765320988 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS765581751 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
RS765885227 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
RS767141738 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS767199033 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 8, Timothy syndrome
RS768117202 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS768270021 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
RS768830617 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Brugada syndrome 3, Timothy syndrome
RS769124319 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS769295096 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS769297492 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS769538757 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS769703001 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Brugada syndrome 3, Timothy syndrome
RS769917254 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS770007601 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS770311259 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, CACNA1C-related disorder
RS771014370 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 8, Timothy syndrome
RS771549676 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS773015884 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Timothy syndrome, Brugada syndrome 3
RS773185026 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS773528195 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS773930851 Health Risk Conflicting classifications of pathogenicity Timothy syndrome, Long QT syndrome, Cardiovascular phenotype
RS774002530 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS774402582 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS775251529 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS776318939 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Ventricular tachycardia, Cardiovascular phenotype
RS777210376 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
RS777945001 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS778658338 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
RS779009338 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS779215492 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS780161540 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, See cases, Cardiovascular phenotype
RS780210232 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
RS780409021 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS781633980 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS78593627 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS786205741 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS786205742 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
RS786205755 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Autism spectrum disorder, Cardiovascular phenotype
RS786205759 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
RS786205773 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Timothy syndrome
RS786205779 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS786205782 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Timothy syndrome, Brugada syndrome 3
RS794727117 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS886038918 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
RS886042224 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS886042281 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
RS886043677 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS918755208 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
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