CAV3 gene homepage

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
General information
Gene symbol CAV3
Gene name caveolin 3
Chromosome 3
Chromosomal band p25
Imprinted Unknown
Genomic reference LRG_329
Transcript reference NM_033337.2
Exon/intron information NM_033337.2 exon/intron table
Associated with diseases CMH-1, hCK, LGMD-1C, LQT-9, RMD, myopathy, distal, Tateyama type
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 321
Unique public DNA variants reported 88
Individuals with public variants 446
Hidden variants 30
Notes This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
NOTE: the information displayed is only part of the data present in the databases, e.g. the database contains much more phenotype data. In addition some records might still be under review, such non-public variants CAN be found querying the "DNA_change" field. Most other non-public data can be queried as well, returning the number of records fulfilling the search criteria (without showing the actual records). For more information, please contact the curator(s).
Date created April 21, 1998
Date last updated December 08, 2018
Version CAV3:181208

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_033337.2.
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/CAV3
External URL CAV3 gene hompage
HGNC 1529
Entrez Gene 859
PubMed articles CAV3
OMIM - Gene 601253
OMIM - Diseases CMH-1 (cardiomyopathy, hypertrophic, familial, type 1 (CMH-1))
hCK (hyperCKemia (hCK, elevated serum creatine phosphokinase))
LGMD-1C (dystrophy, muscular, limb-girdle, type 1C (LGMD-1C))
LQT-9 (QT syndrome, long, type 9 (LQT-9))
RMD (disease, muscle, rippling (RMD))
myopathy, distal, Tateyama type
HGMD CAV3
GeneCards CAV3
GeneTests CAV3


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00004407 3 transcript variant 1 NM_033337.2 NP_203123.1 321


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 © 1998-2018. 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.

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.