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
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 October 15, 2014
Version TMEM43 141015
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GenBank reference NG_008975
Transcript refseq ID NM_024334.2
Total number of unique DNA variants reported 66
Total number of individuals with variant(s) 179
Total number of variants reported 179
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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
HGNC 28472
Entrez Gene 79188
OMIM - Gene 612048
OMIM - Disease ARVD/C
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 © 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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