LOVD CACNA1A homepage

General information
Gene name calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
Gene symbol CACNA1A
Chromosome Location 19p13.2-p13.1
Database location grenada.lumc.nl
Curator Paola Carrera PhD and Stefania Battistini MD PhD
PubMed references View all (unique) PubMed references in the CACNA1A database
Date of creation June 21, 2004
Last update July 20, 2012
Version CACNA1A120720
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NC_000019.9
Transcript refseq ID NM_001127221.1
Total number of unique DNA variants reported 64
Total number of individuals with variant(s) 240
Total number of variants reported 240
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the CACNA1A database, sorted by type of variant (with graphical displays and statistics)
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the CACNA1A database, without patient data
Complete sequence variant listing Listing of all sequence variants in the CACNA1A database
Variants with no known pathogenicity Listing of all CACNA1A variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)
Download table Download the full sequence variant table of the CACNA1A database in tab-delimited text format.

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms

Links to other resources
HGNC 1388
Entrez Gene 773
OMIM - Gene 601011
OMIM - Disease FHM1
HGMD CACNA1A
GeneTests CACNA1A
External link #1 Orphanet
External link #2 http://www.lrg-sequence.org/page.php?page=search_results

Copyright & disclaimer
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