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
RS374177870 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Timothy syndrome
RS374425919 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Brugada syndrome 3, Cardiovascular phenotype
RS374528680 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Cardiomyopathy
RS374549078 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS374857905 Health Risk Conflicting classifications of pathogenicity CACNA1C-related disorder, Cardiovascular phenotype, Long QT syndrome
RS374991642 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Timothy syndrome
RS375534041 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS375571032 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Timothy syndrome, Cardiovascular phenotype
RS375818733 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Brugada syndrome, Cardiovascular phenotype
RS376530064 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome 8
RS376706496 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS377165829 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Timothy syndrome
RS377643814 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS377737331 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Timothy syndrome
RS398123517 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS398123518 Health Risk Conflicting classifications of pathogenicity —
RS398123519 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Brugada syndrome 3, Long QT syndrome 8
RS398123521 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS41276706 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, CACNA1C-related disorder, Intellectual disability
RS527741368 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
RS529345041 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS530924728 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, CACNA1C-related disorder
RS531161884 Health Risk Conflicting classifications of pathogenicity Timothy syndrome, Brugada syndrome 3, Long QT syndrome
RS531598856 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS532551057 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Timothy syndrome
RS533676935 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS535350857 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
RS535608443 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 3, Timothy syndrome, Long QT syndrome
RS537002656 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS541967618 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, CACNA1C-related disorder, Cardiovascular phenotype
RS542914369 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome 8
RS545511851 Health Risk Conflicting classifications of pathogenicity Timothy syndrome, Long QT syndrome, Brugada syndrome 3
RS549476254 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Catecholaminergic polymorphic ventricular tachycardia, Long QT syndrome 8
RS551355331 Health Risk Conflicting classifications of pathogenicity —
RS551396698 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS552478740 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Brugada syndrome 3, Timothy syndrome
RS553500083 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Timothy syndrome, Long QT syndrome 8
RS554737427 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS563090568 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
RS56394008 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
RS572234918 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS575583988 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Timothy syndrome, Cardiovascular phenotype
RS578233776 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS587780881 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
RS727503833 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS727503835 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS730880056 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Timothy syndrome, Wolff-Parkinson-White pattern
RS745997744 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS747083495 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS747533547 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
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