The CHRNB1 gene homepage

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
General information
Gene symbol CHRNB1
Gene name cholinergic receptor, nicotinic, beta 1 (muscle)
Chromosome 17
Chromosomal band p13.1
Imprinted Unknown
Genomic reference NG_008026.1
Transcript reference NM_000747.2
Exon/intron information NM_000747.2 exon/intron table
Associated with diseases CMS-2A, CMS-2C
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) David Beeson and Johan den Dunnen
Total number of public variants reported 73
Unique public DNA variants reported 30
Individuals with public variants 165
Hidden variants 13
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 March 10, 2021
Version CHRNB1:210310

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_000747.2.
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 https://www.LOVD.nl/CHRNB1
HGNC 1961
Entrez Gene 1140
PubMed articles CHRNB1
OMIM - Gene 100710
OMIM - Diseases CMS-2A (myasthenic syndrome, congenital, type 2A, slow-channel (CMS-2A))
CMS-2C (myasthenic syndrome, congenital, type 2C, associated with acetylcholine receptor deficiency (CMS-2C))
HGMD CHRNB1
GeneCards CHRNB1
GeneTests CHRNB1
Orphanet CHRNB1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00005149 17 cholinergic receptor, nicotinic, beta 1 (muscle) NM_000747.2 NP_000738.2 73


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 © 2011-2021. 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.