USP30 ubiquitin specific peptidase 30

Information
Symbol
USP30
Type
protein-coding
Description
ubiquitin specific peptidase 30
Entrez Gene ID
84749
Genome
hg19
Position
chr12:109,490,381-109,525,828
Genome
hg38
Position
chr12:109,052,576-109,088,023
MIM
612492 OMIM
HGNC
HGNC:20065 HGNC
Ensembl
ENSG00000135093 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 2
Uncertain significance 0 50
Ranking
ClinVar
0
0
0
54
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
MIM 612492 OMIM
HGNC HGNC:20065 HGNC
Ensembl ENSG00000135093 Ensembl
AllianceGenome HGNC:20065
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000257548.10 hg38 chr12 109,052,576 109,088,023 35,448
ENST00000392784.6 hg38 chr12 109,023,089 109,086,377 63,289
ENST00000392784.6 hg19 chr12 109,460,894 109,524,182 63,289
ENST00000257548.10 hg19 chr12 109,490,381 109,525,828 35,448
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