PRSS48 serine protease 48

Information
Symbol
PRSS48
Type
protein-coding
Description
serine protease 48
Entrez Gene ID
345062
Genome
hg19
Position
chr4:152,198,313-152,213,014
Genome
hg38
Position
chr4:151,277,161-151,291,862
HGNC
HGNC:24635 HGNC
Ensembl
ENSG00000189099 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 4
Uncertain significance 0 42
Ranking
ClinVar
0
0
0
44
2
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 ESSPL
HGNC HGNC:24635 HGNC
Ensembl ENSG00000189099 Ensembl
AllianceGenome HGNC:24635
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000441586.2 hg38 chr4 151,277,171 151,291,453 14,283
ENST00000455694.7 hg38 chr4 151,277,161 151,291,862 14,702
ENST00000455694.7 hg19 chr4 152,198,313 152,213,014 14,702
ENST00000441586.2 hg19 chr4 152,198,323 152,212,605 14,283
Genome browser