The CBS gene homepage

A gene variant database curated by the Kraus Lab.
General information
Gene symbol CBS
Gene name cystathionine-beta-synthase
Chromosome 21
Chromosomal band q22.3
Imprinted Not imprinted
Genomic reference LRG_777
Transcript reference NM_000071.2
Exon/intron information NM_000071.2 exon/intron table
Associated with diseases CBSD, ID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 1014
Unique public DNA variants reported 219
Individuals with public variants 3247
Hidden variants 14
Download all this gene's data Download all data
Notes For this database we have collaborated with the Kraus lab and their databases for deficiency of cystathionine beta-synthase (CBS) and propionyl CoA carboxylase (PCC). Most data collected derive from the PCCA database (Jan P. Kraus, Sarah Venezia & Mirek Janosik) and we refer to the original source for more detailed information.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created April 05, 2011
Date last updated September 15, 2020
Version CBS:200915

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_000071.2.
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
External URL Orphanet
Cystathionine beta-synthase (CBS) database
HGNC 1550
Entrez Gene 875
PubMed articles CBS
OMIM - Gene 613381
OMIM - Diseases CBSD (homocystinuria, CBS deficiency (CBSD))
GeneCards CBS
GeneTests CBS

Active transcripts




NCBI ID     

NCBI Protein ID     

00000046 21 cystathionine-beta-synthase, transcript variant 1 NM_000071.2 NP_000062.1 1014

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 © 2011-2020. 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.