PSMC6 proteasome 26S subunit, ATPase 6

Information
Symbol
PSMC6
Type
protein-coding
Description
proteasome 26S subunit, ATPase 6
Entrez Gene ID
5706
Genome
hg19
Position
chr14:53,173,918-53,195,308
Genome
hg38
Position
chr14:52,707,200-52,728,590
MIM
602708 OMIM
HGNC
HGNC:9553 HGNC
Ensembl
ENSG00000100519 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 10
Ranking
ClinVar
0
0
0
12
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 RPT5
SYNONYM SUG2
SYNONYM p42
MIM 602708 OMIM
HGNC HGNC:9553 HGNC
Ensembl ENSG00000100519 Ensembl
AllianceGenome HGNC:9553
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000612399.4 hg38 chr14 52,707,178 52,727,995 20,818
ENST00000445930.7 hg38 chr14 52,707,200 52,728,590 21,391
ENST00000445930.7 hg19 chr14 53,173,918 53,195,308 21,391
ENST00000612399.4 hg19 chr14 53,173,896 53,194,713 20,818
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