CHKB gene homepage

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
General information
Gene symbol CHKB
Gene name choline kinase beta
Chromosome 22
Chromosomal band q13.33
Imprinted Unknown
Genomic reference NG_029213.1
Transcript reference NM_005198.4
Exon/intron information NM_005198.4 exon/intron table
Associated with diseases MDCMC
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Johan den Dunnen
Total number of public variants reported 62
Unique public DNA variants reported 38
Individuals with public variants 30
Hidden variants 1
Download all this gene's data Download all data
Notes This database is one of the gene variant databases from the:
Date created June 28, 2011
Date last updated July 12, 2019
Version CHKB:190712

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_005198.4.
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/CHKB
HGNC 1938
Entrez Gene 1120
PubMed articles CHKB
OMIM - Gene 612395
OMIM - Diseases MDCMC (dystrophy, muscular, congenital, megaconial type (MDCMC))
HGMD CHKB
GeneCards CHKB
GeneTests CHKB


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001187 22 choline kinase beta NM_005198.4 NP_005189.2 62


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.