CAPN3 gene homepage

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
General information
Gene symbol CAPN3
Gene name calpain 3, (p94)
Chromosome 15
Chromosomal band q15.1
Imprinted Unknown
Genomic reference NG_008660.1
Transcript reference NM_000070.2
Exon/intron information NM_000070.2 exon/intron table
Associated with diseases LGMD-2, LGMD-2A, LGMDD-4
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Johan den Dunnen and Jacqui Beckmann
Total number of public variants reported 2863
Unique public DNA variants reported 671
Individuals with public variants 2343
Hidden variants 466
Notes This database is one of the gene variant databases from the:
Date created January 10, 1997
Date last updated October 08, 2019
Version CAPN3:191008

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_000070.2.
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/CAPN3
External URL CAPN3 gene hompage
HGNC 1480
Entrez Gene 825
PubMed articles CAPN3
OMIM - Gene 114240
OMIM - Diseases LGMD-2A (dystrophy, muscular, limb-girdle, type 2A (LGMD-2A))
LGMDD-4 (LGMD-1I)
HGMD CAPN3
GeneCards CAPN3
GeneTests CAPN3


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00004330 15 transcript variant 1 NM_000070.2 NP_000061.1 2863


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 © 1997-2019. 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 out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the 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.