CBS cystathionine beta-synthase

Information
Symbol
CBS
Type
protein-coding
Description
cystathionine beta-synthase
Entrez Gene ID
875
Genome
hg19
Position
chr21:44,473,301-44,496,488
Genome
hg38
Position
chr21:43,053,191-43,076,378
MIM
613381 OMIM
HGNC
HGNC:1550 HGNC
Ensembl
ENSG00000160200 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 28 266
Likely pathogenic 0 356
Benign 0 188
Likely benign 0 1,108
Conflicting classifications of pathogenicity 0 148
Uncertain significance 0 558
Ranking
ClinVar
0
0
686
1,606
8
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM CBSL
SYNONYM HIP4
MIM 613381 OMIM
HGNC HGNC:1550 HGNC
Ensembl ENSG00000160200 Ensembl
AllianceGenome HGNC:1550
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000359624.7 hg38 chr21 43,053,191 43,076,362 23,172
ENST00000352178.9 hg38 chr21 43,053,191 43,076,378 23,188
ENST00000398165.8 hg38 chr21 43,053,191 43,075,835 22,645
ENST00000398158.5 hg38 chr21 43,053,191 43,075,831 22,641
ENST00000398158.5 hg19 chr21 44,473,301 44,495,941 22,641
ENST00000398165.8 hg19 chr21 44,473,301 44,495,945 22,645
ENST00000359624.7 hg19 chr21 44,473,301 44,496,472 23,172
ENST00000352178.9 hg19 chr21 44,473,301 44,496,488 23,188
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