The CBS gene homepage

General information
Gene symbol CBS
Gene name cystathionine-beta-synthase
Chromosome 21
Chromosomal band q22.3
Imprinted Unknown
Genomic reference NG_008938.1
Transcript reference NM_000071.2, NM_001178008.1, NM_001178009.1
Associated with diseases CBSD, ID
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 106
Unique public DNA variants reported 16
Individuals with public variants 35
Hidden variants 104
Date created November 30, -0001
Date last updated September 28, 2016
Version CBS:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:1550
Entrez Gene 875
PubMed articles CBS
OMIM - Gene 613381
OMIM - Diseases CBSD (homocystinuria, due to CBS deficiency (CBSD))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00010555 21 transcript variant 2 NM_001178008.1 NP_001171479.1 106
00010556 21 transcript variant 1 NM_000071.2 NP_000062.1 106
00010554 21 transcript variant 3 NM_001178009.1 NP_001171480.1 104