UCHL3 ubiquitin C-terminal hydrolase L3

Information
Symbol
UCHL3
Type
protein-coding
Description
ubiquitin C-terminal hydrolase L3
Entrez Gene ID
7347
Genome
hg19
Position
chr13:76,123,927-76,180,156
Genome
hg38
Position
chr13:75,549,791-75,606,020
MIM
603090 OMIM
HGNC
HGNC:12515 HGNC
Ensembl
ENSG00000118939 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 16
Ranking
ClinVar
0
0
0
16
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 UCH-L3
MIM 603090 OMIM
HGNC HGNC:12515 HGNC
Ensembl ENSG00000118939 Ensembl
AllianceGenome HGNC:12515
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000377595.8 hg38 chr13 75,549,791 75,606,020 56,230
ENST00000377595.8 hg19 chr13 76,123,927 76,180,156 56,230
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