CACNA1E Chromosome 1

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

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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
RS1007809575 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 69, Developmental and epileptic encephalopathy
RS1014152863 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 69, Developmental and epileptic encephalopathy
RS1037223207 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1049589906 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 69, Developmental and epileptic encephalopathy
RS1159957403 Health Risk Conflicting classifications of pathogenicity
RS1212405193 Health Risk Conflicting classifications of pathogenicity
RS1238103479 Health Risk Conflicting classifications of pathogenicity
RS1238784071 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1246607749 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1249717519 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1304893896 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1305652887 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1306776407 Health Risk Conflicting classifications of pathogenicity CACNA1E-related disorder, CACNA1E-related disorder
RS1307479264 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1324836124 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1327484784 Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS1373774924 Health Risk Conflicting classifications of pathogenicity
RS1378877596 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1406883950 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1462979230 Health Risk Conflicting classifications of pathogenicity
RS1490691301 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1553345844 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy, Inborn genetic diseases
RS1553360130 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1651121815 Health Risk Conflicting classifications of pathogenicity
RS1654707104 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 69, Inborn genetic diseases
RS1655719165 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1655753199 Health Risk Conflicting classifications of pathogenicity
RS1656338337 Health Risk Conflicting classifications of pathogenicity
RS1658762654 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 69, Developmental and epileptic encephalopathy
RS1660627756 Health Risk Conflicting classifications of pathogenicity
RS1661213734 Health Risk Conflicting classifications of pathogenicity
RS1662014050 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 69, Developmental and epileptic encephalopathy
RS1662051174 Health Risk Conflicting classifications of pathogenicity
RS1663550401 Health Risk Conflicting classifications of pathogenicity
RS186600513 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS189356042 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2102509840 Health Risk Conflicting classifications of pathogenicity
RS2102718189 Health Risk Conflicting classifications of pathogenicity CACNA1E-related disorder, CACNA1E-related disorder
RS2102723150 Health Risk Conflicting classifications of pathogenicity
RS2102770892 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2102796431 Health Risk Conflicting classifications of pathogenicity
RS2102910660 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2525534950 Health Risk Conflicting classifications of pathogenicity
RS2528691581 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy, 69
RS369634310 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 69, Developmental and epileptic encephalopathy
RS370385055 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy, 69
RS370905391 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372380489 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS372912168 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, See cases, Inborn genetic diseases
RS373971175 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Developmental and epileptic encephalopathy, 69
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