PNPO pyridoxamine 5'-phosphate oxidase

Information
Symbol
PNPO
Type
protein-coding
Description
pyridoxamine 5'-phosphate oxidase
Entrez Gene ID
55163
Genome
hg19
Position
chr17:46,018,937-46,026,674
Genome
hg38
Position
chr17:47,941,571-47,949,308
MIM
603287 OMIM
HGNC
HGNC:30260 HGNC
Ensembl
ENSG00000108439 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 52
Likely pathogenic 0 36
Benign 0 58
Likely benign 0 292
Conflicting classifications of pathogenicity 0 22
Uncertain significance 0 304
Ranking
ClinVar
0
0
134
574
8
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 HEL-S-302
SYNONYM PDXPO
MIM 603287 OMIM
HGNC HGNC:30260 HGNC
Ensembl ENSG00000108439 Ensembl
AllianceGenome HGNC:30260
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000225573.5 hg38 chr17 47,941,567 47,948,272 6,706
ENST00000642017.2 hg38 chr17 47,941,571 47,949,308 7,738
ENST00000434554.7 hg38 chr17 47,941,571 47,947,141 5,571
ENST00000225573.5 hg19 chr17 46,018,933 46,025,638 6,706
ENST00000434554.7 hg19 chr17 46,018,937 46,024,507 5,571
ENST00000642017.2 hg19 chr17 46,018,937 46,026,674 7,738
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