CACNA1C Chromosome 12
Calcium voltage-gated channel subunit alpha1 C
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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 |
|---|---|---|---|
| RS2518585587 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2528223041 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures |
| RS2531952888 | Health Risk | Pathogenic | — |
| RS2532557970 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2534839540 | Health Risk | Pathogenic | — |
| RS2547773063 | Health Risk | Pathogenic | — |
| RS2552094523 | Health Risk | Pathogenic | — |
| RS587782933 | Health Risk | Pathogenic | Ventricular fibrillation, paroxysmal familial, type 1 |
| RS750835733 | Health Risk | Pathogenic | Long QT syndrome, Long QT syndrome 8, Long QT syndrome 8 |
| RS786205745 | Health Risk | Pathogenic | Timothy syndrome, Long QT syndrome, Long QT syndrome 8 |
| RS797044881 | Health Risk | Pathogenic | Inborn genetic diseases, Timothy syndrome, Cardiovascular phenotype |
| RS79891110 | Health Risk | Pathogenic | Timothy syndrome, Congenital long QT syndrome, Long QT syndrome |
| RS80315385 | Health Risk | Pathogenic | Timothy syndrome, Congenital long QT syndrome, Long QT syndrome |
| RS895560697 | Health Risk | Pathogenic | — |
| RS1057517711 | Health Risk | Pathogenic/Likely pathogenic | Hypertrophic cardiomyopathy 1, Long QT syndrome, Long QT syndrome 8 |
| RS199473391 | Health Risk | Pathogenic/Likely pathogenic | Brugada syndrome, Long QT syndrome, Timothy syndrome |
| RS2153440081 | Health Risk | Pathogenic/Likely pathogenic | Timothy syndrome, Long QT syndrome, Timothy syndrome |
| RS2528051488 | Health Risk | Pathogenic/Likely pathogenic | Long QT syndrome, Long QT syndrome |
| RS786205753 | Health Risk | Pathogenic/Likely pathogenic | Long QT syndrome, Long QT syndrome 8, Cardiovascular phenotype |
| RS1006737 | Health Risk | Uncertain risk allele | Post-traumatic stress disorder, Post-traumatic stress disorder |