PRKCSH PRKCSH beta subunit of glucosidase II

Information
Symbol
PRKCSH
Type
protein-coding
Description
PRKCSH beta subunit of glucosidase II
Entrez Gene ID
5589
Genome
hg19
Position
chr19:11,546,456-11,561,783
Genome
hg38
Position
chr19:11,435,635-11,450,968
MIM
177060 OMIM
HGNC
HGNC:9411 HGNC
Ensembl
ENSG00000130175 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 36
Likely pathogenic 0 28
Benign 6 113
Likely benign 0 250
Conflicting classifications of pathogenicity 0 26
Uncertain significance 0 226
Ranking
ClinVar
0
0
138
421
40
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
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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 80K-H
SYNONYM AGE-R2
SYNONYM G19P1
SYNONYM GIIB
SYNONYM GIIbeta
SYNONYM GluIIbeta
SYNONYM PCLD
SYNONYM PCLD1
SYNONYM PKCSH
SYNONYM PLD1
SYNONYM VASAP-60
MIM 177060 OMIM
HGNC HGNC:9411 HGNC
Ensembl ENSG00000130175 Ensembl
AllianceGenome HGNC:9411
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000592741.5 hg38 chr19 11,435,635 11,450,968 15,334
ENST00000589838.5 hg38 chr19 11,436,118 11,450,940 14,823
ENST00000587327.5 hg38 chr19 11,435,745 11,450,867 15,123
ENST00000591462.6 hg38 chr19 11,435,635 11,450,965 15,331
ENST00000677123.1 hg38 chr19 11,435,635 11,450,968 15,334
ENST00000591462.6 hg19 chr19 11,546,456 11,561,780 15,325
ENST00000587327.5 hg19 chr19 11,546,566 11,561,682 15,117
ENST00000589838.5 hg19 chr19 11,546,939 11,561,755 14,817
ENST00000677123.1 hg19 chr19 11,546,456 11,561,783 15,328
ENST00000592741.5 hg19 chr19 11,546,456 11,561,783 15,328
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