PPOX protoporphyrinogen oxidase

Information
Symbol
PPOX
Type
protein-coding
Description
protoporphyrinogen oxidase
Entrez Gene ID
5498
Genome
hg19
Position
chr1:161,136,216-161,141,010
Genome
hg38
Position
chr1:161,166,426-161,171,220
MIM
600923 OMIM
HGNC
HGNC:9280 HGNC
Ensembl
ENSG00000143224 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 78
Likely pathogenic 0 34
Benign 10 22
Likely benign 0 78
Conflicting classifications of pathogenicity 0 26
not provided 0 2
Uncertain significance 0 244
Ranking
ClinVar
0
0
44
372
26
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 PPO
SYNONYM V290M
SYNONYM VP
SYNONYM VPCO
MIM 600923 OMIM
HGNC HGNC:9280 HGNC
Ensembl ENSG00000143224 Ensembl
AllianceGenome HGNC:9280
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000352210.9 hg38 chr1 161,166,410 161,171,218 4,809
ENST00000544598.5 hg38 chr1 161,166,470 161,171,220 4,751
ENST00000367999.9 hg38 chr1 161,166,426 161,171,220 4,795
ENST00000535223.5 hg38 chr1 161,166,498 161,177,092 10,595
ENST00000462866.5 hg38 chr1 161,166,840 161,171,218 4,379
ENST00000352210.9 hg19 chr1 161,136,200 161,141,008 4,809
ENST00000367999.9 hg19 chr1 161,136,216 161,141,010 4,795
ENST00000462866.5 hg19 chr1 161,136,630 161,141,008 4,379
ENST00000535223.5 hg19 chr1 161,136,288 161,146,882 10,595
ENST00000544598.5 hg19 chr1 161,136,260 161,141,010 4,751
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