CACNA1S gene homepage

General information
Gene symbol CACNA1S
Gene name calcium channel, voltage-dependent, L type, alpha 1S subunit
Chromosome 1
Chromosomal band q32
Imprinted Unknown
Genomic reference NG_009816.1
Transcript reference NM_000069.2
Associated with diseases HOKPP, HOKPP-1, MHS, MHS-5, Thyrotoxic periodic paralysis
Citation reference(s) -
Curators (2) Ieke Ginjaar and Vincent Janmaat
Total number of public variants reported 209
Unique public DNA variants reported 90
Individuals with public variants 95
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created September 18, 2007
Date last updated December 08, 2018
Version CACNA1S:181208

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 https://www.LOVD.nl/CACNA1S
External URL Orphanet
HGNC 1397
Entrez Gene 779
PubMed articles CACNA1S
OMIM - Gene 114208
OMIM - Diseases HOKPP-1 (paralysis, hypokalemic, periodic, type 1 (HOKPP-1))
MHS-5 (hyperthermia, malignant, susceptibility, type 5 (MHS-5))
Thyrotoxic periodic paralysis
HGMD CACNA1S
GeneCards CACNA1S
GeneTests CACNA1S


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001372 1 calcium channel, voltage-dependent, L type, alpha 1S subunit NM_000069.2 NP_000060.2 209


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