CACNA1A gene homepage

General information
Gene symbol CACNA1A
Gene name calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
Chromosome 19
Chromosomal band p13
Imprinted Not imprinted
Genomic reference LRG_7
Transcript reference NM_001127221.1, NM_023035.2
Exon/intron information NM_001127221.1 exon/intron table, NM_023035.2 exon/intron table
Associated with diseases EA-2, FHM-1, SCA-6
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 708
Unique public DNA variants reported 281
Individuals with public variants 441
Hidden variants 3
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. The database was initiated by Paola Carrera and Stefania Battistini as part of the Familial Hemiplegic Migraine (FHM) Variation Databases and curated until July 2012.
Date created June 21, 2004
Date last updated December 11, 2018
Version CACNA1A:181211

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_001127221.1, NM_023035.2.
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 http://www.LOVD.nl/CACNA1A
External URL Orphanet
HGNC 1388
Entrez Gene 773
PubMed articles CACNA1A
OMIM - Gene 601011
OMIM - Diseases EA-2 (ataxia, episodic, type 2 (EA-2))
FHM-1 (migraine, hemiplegic, familial, type 1 (FHM-1))
SCA-6 (ataxia, spinocerebellar, type 6 (SCA-6))
HGMD CACNA1A
GeneCards CACNA1A
GeneTests CACNA1A


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024115 19 transcript variant 3 NM_001127221.1 NP_001120693.1 708
00025282 19 transcript variant 2 NM_023035.2 NP_075461.2 299


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised 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 © 2004-2018. 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.

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