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
RS1009822245 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS1048241141 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cerebral palsy, Long QT syndrome 8
RS1057518301 Health Risk Conflicting classifications of pathogenicity Timothy syndrome, Long QT syndrome, Timothy syndrome
RS1057518994 Health Risk Conflicting classifications of pathogenicity intellectual deficiency, Epilepsy, Neurodevelopmental disorder with hypotonia
RS1057524804 Health Risk Conflicting classifications of pathogenicity Timothy syndrome, Long QT syndrome, Timothy syndrome
RS1064796583 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS111442547 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
RS111606207 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Brugada syndrome 3
RS113157354 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS1131653 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS113929946 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, CACNA1C-related disorder
RS114851656 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 3, Neurodevelopmental disorder with hypotonia, language delay
RS1168511209 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
RS1178438128 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Timothy syndrome, Long QT syndrome 8
RS121912775 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 3, Brugada syndrome, Timothy syndrome
RS1221384071 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS1231959976 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS1247088024 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS1267845940 Health Risk Conflicting classifications of pathogenicity CACNA1C-related disorder, Long QT syndrome, CACNA1C-related disorder
RS1279028766 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Brugada syndrome 3, Long QT syndrome 8
RS1297869395 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, CACNA1C-related disorder, Cardiovascular phenotype
RS1312429867 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
RS1337865963 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Neurodevelopmental disorder with hypotonia, language delay
RS1373685560 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS1391136601 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS141633456 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
RS1417477759 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS145549773 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS1455874684 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS1464980383 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Brugada syndrome 3
RS1489840314 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
RS1555193345 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Neurodevelopmental disorder with hypotonia, language delay
RS1568666242 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS1568789814 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
RS181502604 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
RS184684058 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
RS186015395 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS186741807 Health Risk Conflicting classifications of pathogenicity Congestive heart failure, Long QT syndrome, CACNA1C-related disorder
RS186867242 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
RS189719120 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Long QT syndrome
RS190288386 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, CACNA1C-related disorder
RS193922616 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Long QT syndrome, Cardiovascular phenotype
RS199473392 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Timothy syndrome, Long QT syndrome
RS199473660 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Brugada syndrome (shorter-than-normal QT interval), Cardiovascular phenotype
RS199538058 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
RS199694744 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, Cardiovascular phenotype
RS199776761 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Timothy syndrome
RS200289321 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype, Timothy syndrome
RS200330469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome, CACNA1C-related disorder
RS200412525 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
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