Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands
LOVD TMEM43 homepage

General information
Gene name Transmembrane Protein 43
Gene symbol TMEM43
Chromosome Location 3p25
Database location grenada.lumc.nl
Curator Paul van der Zwaag
Database reference for citations van der Zwaag et al.
PubMed references View all (unique) PubMed references in the TMEM43 database
Date of creation January 23, 2009
Last update March 11, 2010
Version TMEM43 100311
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GenBank reference NG_008975
Transcript refseq ID NM_024334.2
Total number of unique DNA variants reported 33
Total number of individuals with variant(s) 146
Total number of variants reported 146
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the TMEM43 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 TMEM43 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the TMEM43 database
Variants with no known pathogenicity Listing of all TMEM43 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)
Download table Download the full sequence variant table of the TMEM43 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
Homepage http://www.arvcdatabase.info
HGNC 28472
Entrez Gene 79188
OMIM - Gene 612048
OMIM - Disease ARVD/C
HGMD TMEM43
GeneTests TMEM43
External link Orphanet

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 © 2014. 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.