PAH phenylalanine hydroxylase

Information
Symbol
PAH
Type
protein-coding
Description
phenylalanine hydroxylase
Entrez Gene ID
5053
Genome
hg19
Position
chr12:103,230,667-103,311,022
Genome
hg38
Position
chr12:102,836,889-102,917,244
MIM
612349 OMIM
HGNC
HGNC:8582 HGNC
Ensembl
ENSG00000171759 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 136 898
Likely pathogenic 0 750
Benign 0 112
Likely benign 0 655
Conflicting classifications of pathogenicity 0 26
no classification for the single variant 0 2
not provided 0 104
Uncertain significance 0 572
Ranking
ClinVar
0
1,482
214
1,165
24
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 PH
SYNONYM PKU
SYNONYM PKU1
MIM 612349 OMIM
HGNC HGNC:8582 HGNC
Ensembl ENSG00000171759 Ensembl
AllianceGenome HGNC:8582
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000553106.6 hg38 chr12 102,836,889 102,917,244 80,356
ENST00000307000.7 hg38 chr12 102,838,324 102,917,254 78,931
ENST00000307000.7 hg19 chr12 103,232,102 103,311,032 78,931
ENST00000553106.6 hg19 chr12 103,230,667 103,311,022 80,356
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