The CBS gene homepage

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 1067
Unique public DNA variants reported 242
Individuals with public variants 3251
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 CBS 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 July 07, 2023
Version CBS:230707

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 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
Orphanet CBS

Active transcripts




NCBI ID     

NCBI Protein ID     

00000046 21 cystathionine-beta-synthase, transcript variant 1 NM_000071.2 NP_000062.1 1067

Copyright & disclaimer
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