CSTB cystatin B

Information
Symbol
CSTB
Type
protein-coding
Description
cystatin B
Entrez Gene ID
1476
Genome
hg19
Position
chr21:45,193,831-45,196,189
Genome
hg38
Position
chr21:43,773,950-43,776,308
MIM
601145 OMIM
HGNC
HGNC:2482 HGNC
Ensembl
ENSG00000160213 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 16
Likely pathogenic 0 20
Benign 0 18
Likely benign 0 116
Conflicting classifications of pathogenicity 0 20
not provided 1 6
Uncertain significance 0 130
Ranking
ClinVar
0
0
64
212
12
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 CPI-B
SYNONYM CST6
SYNONYM EPM1
SYNONYM EPM1A
SYNONYM PME
SYNONYM STFB
SYNONYM ULD
MIM 601145 OMIM
HGNC HGNC:2482 HGNC
Ensembl ENSG00000160213 Ensembl
AllianceGenome HGNC:2482
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000291568.7 hg38 chr21 43,773,950 43,776,308 2,359
ENST00000640406.1 hg38 chr21 43,772,521 43,776,318 3,798
ENST00000640406.1 hg19 chr21 45,192,402 45,196,199 3,798
ENST00000291568.7 hg19 chr21 45,193,831 45,196,189 2,359
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