HPD 4-hydroxyphenylpyruvate dioxygenase

Information
Symbol
HPD
Type
protein-coding
Description
4-hydroxyphenylpyruvate dioxygenase
Entrez Gene ID
3242
Genome
hg19
Position
chr12:122,277,433-122,296,765
Genome
hg38
Position
chr12:121,839,527-121,858,859
MIM
609695 OMIM
HGNC
HGNC:5147 HGNC
Ensembl
ENSG00000158104 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 36
Likely pathogenic 0 22
Benign 0 68
Likely benign 0 436
Conflicting classifications of pathogenicity 0 24
Uncertain significance 0 152
Ranking
ClinVar
0
0
58
634
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
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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 :
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 4-HPPD
SYNONYM 4HPPD
SYNONYM GLOD3
SYNONYM HPPD
SYNONYM HPPDASE
SYNONYM PPD
MIM 609695 OMIM
HGNC HGNC:5147 HGNC
Ensembl ENSG00000158104 Ensembl
AllianceGenome HGNC:5147
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000289004.8 hg38 chr12 121,839,527 121,858,859 19,333
ENST00000543163.5 hg38 chr12 121,839,530 121,863,596 24,067
ENST00000289004.8 hg19 chr12 122,277,433 122,296,765 19,333
ENST00000543163.5 hg19 chr12 122,277,436 122,301,502 24,067
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