PRTN3 proteinase 3

Information
Symbol
PRTN3
Type
protein-coding
Description
proteinase 3
Entrez Gene ID
5657
Genome
hg19
Position
chr19:840,999-848,175
Genome
hg38
Position
chr19:840,999-848,175
MIM
177020 OMIM
HGNC
HGNC:9495 HGNC
Ensembl
ENSG00000196415 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 12
Uncertain significance 0 24
Ranking
ClinVar
0
0
2
36
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
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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 :
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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 ACPA
SYNONYM AGP7
SYNONYM C-ANCA
SYNONYM CANCA
SYNONYM MBN
SYNONYM MBT
SYNONYM NP-4
SYNONYM NP4
SYNONYM P29
SYNONYM PR-3
SYNONYM PR3
MIM 177020 OMIM
HGNC HGNC:9495 HGNC
Ensembl ENSG00000196415 Ensembl
AllianceGenome HGNC:9495
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000544537.2 hg38 chr19 843,341 848,175 4,835
ENST00000234347.10 hg38 chr19 840,999 848,175 7,177
ENST00000234347.10 hg19 chr19 840,999 848,175 7,177
ENST00000544537.2 hg19 chr19 843,341 848,175 4,835
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