PROC protein C, inactivator of coagulation factors Va and VIIIa

Information
Symbol
PROC
Type
protein-coding
Description
protein C, inactivator of coagulation factors Va and VIIIa
Entrez Gene ID
5624
Genome
hg19
Position
chr2:128,177,458-128,186,559
Genome
hg38
Position
chr2:127,419,882-127,428,983
MIM
612283 OMIM
HGNC
HGNC:9451 HGNC
Ensembl
ENSG00000115718 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 9 100
Likely pathogenic 0 114
Benign 0 54
Likely benign 0 172
Conflicting classifications of pathogenicity 0 56
not provided 0 2
Uncertain significance 0 272
Ranking
ClinVar
0
0
142
488
28
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 APC
SYNONYM PC
SYNONYM PROC1
SYNONYM THPH3
SYNONYM THPH4
MIM 612283 OMIM
HGNC HGNC:9451 HGNC
Ensembl ENSG00000115718 Ensembl
AllianceGenome HGNC:9451
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000409048.1 hg38 chr2 127,419,882 127,428,983 9,102
ENST00000234071.8 hg38 chr2 127,418,427 127,429,242 10,816
ENST00000234071.8 hg19 chr2 128,176,003 128,186,818 10,816
ENST00000409048.1 hg19 chr2 128,177,458 128,186,559 9,102
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