CACNA1C Chromosome 12

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

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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
RS200588235 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Brugada syndrome 3
RS200800133 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
RS200865354 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS200941579 Health Risk Conflicting classifications of pathogenicity Timothy syndrome, Long QT syndrome, Timothy syndrome
RS201049603 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Brugada syndrome 3
RS201090446 Health Risk Conflicting classifications of pathogenicity Timothy syndrome, Cardiovascular phenotype, Long QT syndrome
RS201174821 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS201258230 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, CACNA1C-related disorder
RS201345843 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, CACNA1C-related disorder
RS201392574 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, CACNA1C-related disorder
RS201492706 Health Risk Conflicting classifications of pathogenicity Restrictive cardiomyopathy, Long QT syndrome, Brugada syndrome
RS201756421 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Timothy syndrome
RS201918158 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS202194703 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS202216172 Health Risk Conflicting classifications of pathogenicity CACNA1C-related disorder, Cardiovascular phenotype, CACNA1C-related disorder
RS2061710859 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS2076324884 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS2097780990 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
RS2099740070 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS2153655235 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS2154562876 Health Risk Conflicting classifications of pathogenicity Timothy syndrome, Timothy syndrome
RS2154571835 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 8, Long QT syndrome 8
RS2497871916 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS2518132100 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
RS2529625584 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS2529919336 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
RS367638447 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, CACNA1C-related disorder
RS367895193 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS368700869 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Timothy syndrome, Cardiovascular phenotype
RS369044605 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
RS369079645 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS369246066 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 8, CACNA1C-related disorder
RS369255950 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Timothy syndrome
RS369421219 Health Risk Conflicting classifications of pathogenicity Ventricular tachycardia, Long QT syndrome, Cardiovascular phenotype
RS369438564 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS369483452 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Timothy syndrome
RS369884505 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome 8
RS370432385 Health Risk Conflicting classifications of pathogenicity Timothy syndrome, Long QT syndrome, Cardiovascular phenotype
RS370471203 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS370576211 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS371702432 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Ventricular tachycardia
RS371760034 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Brugada syndrome 3
RS371831239 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
RS372702466 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, CACNA1C-related disorder
RS372915169 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, CACNA1C-related disorder, Cardiovascular phenotype
RS373124557 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Short QT Syndrome 4, Cardiovascular phenotype
RS373331407 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS373335068 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Wolff-Parkinson-White pattern, Cardiovascular phenotype
RS373503739 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, CACNA1C-related disorder
RS373687005 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Timothy syndrome
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