The PAH gene homepage

General information
Gene symbol PAH
Gene name phenylalanine hydroxylase
Chromosome 12
Chromosomal band q22-q24.2
Imprinted Unknown
Genomic reference NG_008690.2
Transcript reference NM_000277.1
Exon/intron information NM_000277.1 exon/intron table
Associated with diseases PKU
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 5818
Unique public DNA variants reported 1608
Individuals with public variants 4024
Hidden variants 8
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created April 05, 2011
Date last updated January 11, 2023
Version PAH:230111

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000277.1.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/PAH
External URL Phenylalanine Hhydroxylase gene locus-specific database (PAHvdb)
HGNC 8582
Entrez Gene 5053
PubMed articles PAH
OMIM - Gene 612349
OMIM - Diseases PKU (phenylketonuria (PKU))
HGMD PAH
GeneCards PAH
GeneTests PAH
Orphanet PAH


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000005 12 phenylalanine hydroxylase NM_000277.1 NP_000268.1 5818


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