CHRNE gene homepage

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
General information
Gene symbol CHRNE
Gene name cholinergic receptor, nicotinic, epsilon (muscle)
Chromosome 17
Chromosomal band p13.2
Imprinted Unknown
Genomic reference NG_008029.2
Transcript reference NM_000080.3
Exon/intron information NM_000080.3 exon/intron table
Associated with diseases CMS-4A, CMS-4B, CMS-4C
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) David Beeson and Johan den Dunnen
Total number of public variants reported 320
Unique public DNA variants reported 122
Individuals with public variants 264
Hidden variants 108
Download all this gene's data Download all data
Notes This database is one of the gene variant databases from the:
Date created February 01, 2011
Date last updated December 04, 2019
Version CHRNE:191204

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_000080.3.
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/CHRNE
HGNC 1966
Entrez Gene 1145
PubMed articles CHRNE
OMIM - Gene 100725
OMIM - Diseases CMS-4A (myasthenic syndrome, congenital, type 4A, slow-channel (CMS-4A))
CMS-4B (myasthenic syndrome, congenital, type 4B, fast-channel (CMS-4B))
CMS-4C (myasthenic syndrome, congenital, type 4C, associated with acetylcholine receptor deficiency (CMS-4C))
HGMD CHRNE
GeneCards CHRNE
GeneTests CHRNE


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00005154 17 cholinergic receptor, nicotinic, epsilon NM_000080.3 NP_000071.1 320


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 © 2011-2019. 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.