CST3 cystatin C

Information
Symbol
CST3
Type
protein-coding
Description
cystatin C
Entrez Gene ID
1471
Genome
hg19
Position
chr20:23,607,343-23,618,582
Genome
hg38
Position
chr20:23,626,706-23,637,945
MIM
604312 OMIM
HGNC
HGNC:2475 HGNC
Ensembl
ENSG00000101439 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Benign 4 24
Likely benign 0 16
Uncertain significance 0 36
Ranking
ClinVar
0
0
8
66
2
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 ARMD11
SYNONYM HEL-S-2
MIM 604312 OMIM
HGNC HGNC:2475 HGNC
Ensembl ENSG00000101439 Ensembl
AllianceGenome HGNC:2475
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000376925.8 hg38 chr20 23,633,657 23,637,955 4,299
ENST00000398411.5 hg38 chr20 23,626,706 23,637,945 11,240
ENST00000398409.1 hg38 chr20 23,633,657 23,638,473 4,817
ENST00000398411.5 hg19 chr20 23,607,343 23,618,582 11,240
ENST00000376925.8 hg19 chr20 23,614,294 23,618,592 4,299
ENST00000398409.1 hg19 chr20 23,614,294 23,619,110 4,817
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