PSMB4 proteasome 20S subunit beta 4

Information
Symbol
PSMB4
Type
protein-coding
Description
proteasome 20S subunit beta 4
Entrez Gene ID
5692
Genome
hg19
Position
chr1:151,372,049-151,374,413
Genome
hg38
Position
chr1:151,399,573-151,401,937
MIM
602177 OMIM
HGNC
HGNC:9541 HGNC
Ensembl
ENSG00000159377 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Benign 0 24
Likely benign 0 156
Conflicting classifications of pathogenicity 0 6
Uncertain significance 0 220
Ranking
ClinVar
0
0
30
368
4
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 :
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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 HN3
SYNONYM HsN3
SYNONYM PRAAS3
SYNONYM PROS-26
SYNONYM PROS26
MIM 602177 OMIM
HGNC HGNC:9541 HGNC
Ensembl ENSG00000159377 Ensembl
AllianceGenome HGNC:9541
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000290541.7 hg38 chr1 151,399,573 151,401,937 2,365
ENST00000290541.7 hg19 chr1 151,372,049 151,374,413 2,365
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