CBS
This page contains an overview of the genetic variation in the CBS gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:
CBS gene and transcript details
Gene Name
cystathionine-beta-synthase
Gene Links
Ensembl: ENSG00000160200 -
Locus Reference Genomic:
Genomic Location
Chromosome 21 : 44,473,990 - 44,492,303 (reverse strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (1653 bases) | Protein (551 aa) |
|---|---|---|
 |
ENST00000398165 | ENSP00000381231 |
 |
||
 |
NM_000071.2 | |
 |
P35520 |
Summary of CBS in Cardiomyopathies
CBS variants in ExAC
Details of the protein-altering CBS variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.
| Total Variants | Combined frequency of rare variants | |
|---|---|---|
| All Variants | 264 | 0.00470 |
| Truncating | 17 | 0.00020 |
| Missense | 197 | 0.00365 |
| Inframe | 3 | 0.00004 |
| Splice Site | 47 | 0.00080 |