CACNA2D1 Chromosome 7
Calcium voltage-gated channel auxiliary subunit alpha2delta 1
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What This Gene Does
The preproprotein encoded by this gene is cleaved into multiple chains that comprise the alpha-2 and delta subunits of the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. Mutations in this gene can cause cardiac deficiencies, including Brugada syndrome and short QT syndrome. Alternate splicing results in multiple transcript variants, some of which may lack the delta subunit portion. [provided by RefSeq, Nov 2014]
Gene Info
Gene Group
Calcium voltage-gated channel auxiliary alpha2delta subunits
Locus Type
gene with protein product
Location
7q21.11
Ensembl
ENSG00000153956
Associated Conditions (10)
Brugada syndrome
Cardiovascular phenotype
CACNA2D1-related disorder
Brugada syndrome 1
Ventricular fibrillation
Breast carcinoma
Paroxysmal atrial fibrillation
Cardiac arrest
Short QT syndrome
Developmental and epileptic encephalopathy 110
Key Variants
RS1218449046
Conflicting classifications of pathogenicity
Brugada syndrome, Cardiovascular phenotype, Brugada syndrome
Health Risk
RS1281680153
Conflicting classifications of pathogenicity
Brugada syndrome, Cardiovascular phenotype, Brugada syndrome
Health Risk
RS139439725
Conflicting classifications of pathogenicity
Brugada syndrome, Cardiovascular phenotype, Brugada syndrome
Health Risk
RS139608070
Conflicting classifications of pathogenicity
Brugada syndrome, Cardiovascular phenotype, Brugada syndrome
Health Risk
RS145109446
Conflicting classifications of pathogenicity
Brugada syndrome, Cardiovascular phenotype, Brugada syndrome
Health Risk
RS149510838
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Brugada syndrome, Cardiovascular phenotype
Health Risk
RS191213592
Conflicting classifications of pathogenicity
Brugada syndrome, Cardiovascular phenotype, CACNA2D1-related disorder
Health Risk
RS2130336971
Conflicting classifications of pathogenicity
Brugada syndrome, Cardiovascular phenotype, Brugada syndrome
Health Risk
RS2484907850
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Brugada syndrome, Cardiovascular phenotype
Health Risk
RS371500586
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Brugada syndrome, Cardiovascular phenotype
Health Risk
RS372164615
Conflicting classifications of pathogenicity
Brugada syndrome, Cardiovascular phenotype, Brugada syndrome
Health Risk
RS375189396
Conflicting classifications of pathogenicity
Brugada syndrome, Cardiovascular phenotype, Brugada syndrome
Health Risk
All Variants (38)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1218449046 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, Brugada syndrome |
| RS1281680153 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, Brugada syndrome |
| RS139439725 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, Brugada syndrome |
| RS139608070 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, Brugada syndrome |
| RS145109446 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, Brugada syndrome |
| RS149510838 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Brugada syndrome, Cardiovascular phenotype |
| RS191213592 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, CACNA2D1-related disorder |
| RS2130336971 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, Brugada syndrome |
| RS2484907850 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Brugada syndrome, Cardiovascular phenotype |
| RS371500586 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Brugada syndrome, Cardiovascular phenotype |
| RS372164615 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, Brugada syndrome |
| RS375189396 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, Brugada syndrome |
| RS375733834 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Brugada syndrome, Cardiovascular phenotype |
| RS532261094 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, Brugada syndrome |
| RS542692632 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Brugada syndrome, Brugada syndrome 1 |
| RS745501384 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, Brugada syndrome |
| RS747500641 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Brugada syndrome, Cardiovascular phenotype |
| RS748581194 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, Brugada syndrome |
| RS749398266 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, Brugada syndrome |
| RS749965891 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, Brugada syndrome |
| RS751204853 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, Brugada syndrome |
| RS756707031 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Short QT syndrome, Brugada syndrome |
| RS758561622 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, Brugada syndrome |
| RS761738920 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, Brugada syndrome |
| RS766849009 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, Brugada syndrome |
| RS768408345 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, Brugada syndrome |
| RS768768419 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, Brugada syndrome |
| RS770950993 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, Brugada syndrome |
| RS774975279 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, Brugada syndrome |
| RS777197885 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, Brugada syndrome |
| RS79216498 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Brugada syndrome, Cardiovascular phenotype |
| RS79571328 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, Brugada syndrome |
| RS80063198 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome, Cardiovascular phenotype, Brugada syndrome |
| RS866283042 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Developmental and epileptic encephalopathy 110, Brugada syndrome |
| RS917105846 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Brugada syndrome, Cardiovascular phenotype |
| RS1389529434 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 110, Developmental and epileptic encephalopathy 110 |
| RS2486042652 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 110, Developmental and epileptic encephalopathy 110 |
| RS780854867 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 110, Developmental and epileptic encephalopathy 110 |