PRSS1 serine protease 1

Information
Symbol
PRSS1
Type
protein-coding
Description
serine protease 1
Entrez Gene ID
5644
Genome
hg19
Position
chr7:142,457,323-142,460,923
Genome
hg38
Position
chr7:142,749,472-142,753,072
MIM
276000 OMIM
HGNC
HGNC:9475 HGNC
Ensembl
ENSG00000204983 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 16
Likely pathogenic 0 10
Benign 10 68
Likely benign 1 438
Conflicting classifications of pathogenicity 0 54
Uncertain significance 8 798
Ranking
ClinVar
0
0
354
926
10
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 :
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 TRP1
SYNONYM TRY1
SYNONYM TRY4
SYNONYM TRYP1
MIM 276000 OMIM
HGNC HGNC:9475 HGNC
Ensembl ENSG00000204983 Ensembl
AllianceGenome HGNC:9475
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000486171.5 hg38 chr7 142,749,468 142,753,020 3,553
ENST00000492062.2 hg38 chr7 142,749,472 142,753,069 3,598
ENST00000311737.12 hg38 chr7 142,749,472 142,753,072 3,601
ENST00000486171.5 hg19 chr7 142,457,319 142,460,871 3,553
ENST00000492062.2 hg19 chr7 142,457,323 142,460,920 3,598
ENST00000311737.12 hg19 chr7 142,457,323 142,460,923 3,601
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