CACNA1E Chromosome 1

Calcium voltage-gated channel subunit alpha1 E
119 variants 119 Health Risk

Upload your DNA to see your personal genotypes for variants in CACNA1E.

What This Gene Does
Voltage-dependent calcium channels are multisubunit complexes consisting of alpha-1, alpha-2, beta, and delta subunits in a 1:1:1:1 ratio. These channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. This gene encodes the alpha-1E subunit of the R-type calcium channels, which belong to the 'high-voltage activated' group that maybe involved in the modulation of firing patterns of neurons important for information processing. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011]
Gene Info
Gene Group
"EF-hand domain containing|Calcium voltage-gated channel alpha1 subunits"
Locus Type
gene with protein product
Location
1q25.3
Ensembl
ENSG00000198216
Associated Conditions (7)
Developmental and epileptic encephalopathy
69
Inborn genetic diseases
CACNA1E-related disorder
See cases
Intellectual disability
Van der Woude syndrome 1
Key Variants
All Variants (119)
RSID Category Clinical Significance Conditions
RS374689888 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 69, Inborn genetic diseases
RS377232916 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377338098 Health Risk Conflicting classifications of pathogenicity
RS377536482 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 69, Developmental and epileptic encephalopathy
RS377580656 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 69, Developmental and epileptic encephalopathy
RS534272474 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS535592986 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 69, Developmental and epileptic encephalopathy
RS538192254 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 69, Developmental and epileptic encephalopathy
RS557456591 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS576927174 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 69, Developmental and epileptic encephalopathy
RS748537145 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757890592 Health Risk Conflicting classifications of pathogenicity
RS758128368 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy, 69
RS759093976 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 69, Developmental and epileptic encephalopathy
RS760287778 Health Risk Conflicting classifications of pathogenicity CACNA1E-related disorder, CACNA1E-related disorder
RS762766720 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 69, Developmental and epileptic encephalopathy
RS762920383 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762994535 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764017933 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765443815 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 69, Inborn genetic diseases
RS765523959 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767278261 Health Risk Conflicting classifications of pathogenicity
RS767745136 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768308084 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy, 69
RS769784112 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769961549 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 69, Inborn genetic diseases
RS770435124 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770750685 Health Risk Conflicting classifications of pathogenicity
RS771126920 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772170723 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 69, Developmental and epileptic encephalopathy
RS772762981 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774490890 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775338609 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 69, Developmental and epileptic encephalopathy
RS775398717 Health Risk Conflicting classifications of pathogenicity
RS777347120 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy, 69
RS777684224 Health Risk Conflicting classifications of pathogenicity
RS780589733 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781565844 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS866037100 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 69, Developmental and epileptic encephalopathy
RS891361497 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS932095325 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS958027601 Health Risk Conflicting classifications of pathogenicity
RS980201415 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS983368102 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 69, Developmental and epileptic encephalopathy
RS991751038 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1064795779 Health Risk Likely pathogenic
RS1361083258 Health Risk Likely pathogenic
RS1553286278 Health Risk Likely pathogenic
RS1653295871 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 69, Developmental and epileptic encephalopathy
RS1658058398 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 69, Developmental and epileptic encephalopathy
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