View CACNA1C gene homepage

General information
Gene symbol CACNA1C
Gene name calcium channel, voltage-dependent, L type, alpha 1C subunit
Chromosome 12
Chromosomal band p13.3
Imprinted Unknown
Genomic reference LRG_334
Transcript reference NM_000719.6, NM_199460.2
Exon/intron information NM_000719.6, NM_199460.2
Associated with diseases BRGDA-3, ID, Timothy
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 9
Unique public DNA variants reported 7
Individuals with public variants 4
Hidden variants 0
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created September 13, 2012
Date last updated January 27, 2016
Version CACNA1C:160127

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/CACNA1C
HGNC 1390
Entrez Gene 775
PubMed articles CACNA1C
OMIM - Gene 114205
OMIM - Diseases BRGDA-3 (Brugada syndrome, type 3 (BRGDA-3))
Timothy (Timothy syndrome)
HGMD CACNA1C
GeneCards CACNA1C
GeneTests CACNA1C


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001160 12 transcript variant 18 NM_000719.6 NP_000710.5 9
00024102 12 transcript variant 1 NM_199460.2 NP_955630.2 9


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