CTSV cathepsin V

Information
Symbol
CTSV
Type
protein-coding
Description
cathepsin V
Entrez Gene ID
1515
Genome
hg19
Position
chr9:99,791,959-99,801,424
Genome
hg38
Position
chr9:97,029,677-97,039,142
MIM
603308 OMIM
HGNC
HGNC:2538 HGNC
Ensembl
ENSG00000136943 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 4
Uncertain significance 0 22
Ranking
ClinVar
0
0
0
28
0
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
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 CATL2
SYNONYM CTSL2
SYNONYM CTSU
MIM 603308 OMIM
HGNC HGNC:2538 HGNC
Ensembl ENSG00000136943 Ensembl
AllianceGenome HGNC:2538
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000259470.6 hg38 chr9 97,029,677 97,039,142 9,466
ENST00000679661.1 hg38 chr9 97,032,655 97,047,263 14,609
ENST00000681927.1 hg38 chr9 97,029,677 97,039,142 9,466
ENST00000680490.1 hg38 chr9 97,029,677 97,038,053 8,377
ENST00000538255.6 hg38 chr9 97,029,677 97,039,102 9,426
ENST00000680221.1 hg38 chr9 97,032,655 97,039,139 6,485
ENST00000681737.1 hg38 chr9 97,032,655 97,039,140 6,486
ENST00000680490.1 hg19 chr9 99,791,959 99,800,335 8,377
ENST00000538255.6 hg19 chr9 99,791,959 99,801,384 9,426
ENST00000259470.6 hg19 chr9 99,791,959 99,801,424 9,466
ENST00000681927.1 hg19 chr9 99,791,959 99,801,424 9,466
ENST00000680221.1 hg19 chr9 99,794,937 99,801,421 6,485
ENST00000681737.1 hg19 chr9 99,794,937 99,801,422 6,486
ENST00000679661.1 hg19 chr9 99,794,937 99,809,545 14,609
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