LOVD EMD homepage

General information
Gene name Emery-Dreifuss muscular dystrophy (emerin)
Gene symbol EMD
Chromosome Location Xq28
Database location the Leiden Muscular Dystrophy pages
Curator Johan den Dunnen
PubMed references View all (unique) PubMed references in the EMD database
Date of creation November 20, 2004
Last update July 28, 2017
Version EMD170728
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_008677.1
Transcript refseq ID NM_000117.2
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 107
Total number of individuals with variant(s) 225
Total number of variants reported 219
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NOTE The basis for this database was the Emery-Dreifuss muscular dystrophy mutation database originally constructed by dr. Yates at http://www.path.cam.ac.uk/emd/.

Graphical displays and utilities
Summary tables Summary of all sequence variants in the EMD database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
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 EMD database, without patient data
Complete sequence variant listing Listing of all sequence variants in the EMD database
Variants with no known pathogenicity Listing of all EMD variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

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
Search through hidden entries Find the number of variant entries in the database (including hidden entries) matching your search terms.

Links to other resources
HGNC 3331
Entrez Gene 2010
OMIM - Gene 300384
OMIM - Disease Emery-Dreifuss muscular dystrophy, X-linked (EDMD)
GeneCards EMD
GeneTests EMD

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.

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.