The 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_009816.2
Transcript reference NM_000069.2
Exon/intron information NM_000069.2 exon/intron table
Associated with diseases HOKPP, HOKPP1, MHS, MHS5, TTPP1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 310
Unique public DNA variants reported 150
Individuals with public variants 376
Hidden variants 21
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. We gratefully acknowledge the work of Ieke Ginjaar (LUMC, Leiden) and Vincent Janmaat (LUMC, Leiden) submitting published variants to this gene variant database.
Date created September 18, 2007
Date last updated February 26, 2024
Version CACNA1S:240226

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000069.2.
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
HGNC 1397
Entrez Gene 779
PubMed articles CACNA1S
OMIM - Gene 114208
OMIM - Diseases HOKPP1 (paralysis, hypokalemic, periodic, type 1)
MHS5 (hyperthermia, malignant, susceptibility, type 5 (MHS-5))
TTPP1 (Thyrotoxic periodic paralysis)
HGMD CACNA1S
GeneCards CACNA1S
GeneTests CACNA1S
Orphanet 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_000060.2 310


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The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2007-2024. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.