PAH Chromosome 12

Phenylalanine hydroxylase
675 variants 675 Health Risk

Upload your DNA to see your personal genotypes for variants in PAH.

What This Gene Does
This gene encodes a member of the biopterin-dependent aromatic amino acid hydroxylase protein family. The encoded phenylalanine hydroxylase enzyme hydroxylates phenylalanine to tyrosine and is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Aug 2017]
Gene Info
Gene Group
Aromatic amino acid hydroxylase family
Locus Type
gene with protein product
Location
12q23.2
Ensembl
ENSG00000171759
Associated Conditions (25)
Phenylketonuria
Inborn genetic diseases
Hyperphenylalaninemia
See cases
PAH-related disorder
RASopathy
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
Hepatocellular carcinoma
Pituitary hormone deficiency
combined
2
Clear cell carcinoma of kidney
Malignant tumor of esophagus
Polymicrogyria
perisylvian
with cerebellar hypoplasia and arthrogryposis
Mild non-PKU hyperphenylalanemia
Malignant tumor of breast
Propionic acidemia
Pulmonary hypertension
+5 more conditions
Key Variants
RS1592949408
Conflicting classifications of pathogenicity
Phenylketonuria, Phenylketonuria
Health Risk
RS1801145
Conflicting classifications of pathogenicity
Phenylketonuria, Inborn genetic diseases, Phenylketonuria
Health Risk
RS199475593
Conflicting classifications of pathogenicity
Phenylketonuria, Phenylketonuria
Health Risk
RS2136649680
Conflicting classifications of pathogenicity
Phenylketonuria, Phenylketonuria
Health Risk
RS2499626242
Conflicting classifications of pathogenicity
Phenylketonuria, Phenylketonuria
Health Risk
RS374999809
Conflicting classifications of pathogenicity
Phenylketonuria, Phenylketonuria
Health Risk
RS62516098
Conflicting classifications of pathogenicity
Phenylketonuria, Phenylketonuria, Phenylketonuria
Health Risk
RS62517206
Conflicting classifications of pathogenicity
Phenylketonuria, Inborn genetic diseases, Phenylketonuria
Health Risk
RS62642912
Conflicting classifications of pathogenicity
Phenylketonuria, Phenylketonuria
Health Risk
RS767075719
Conflicting classifications of pathogenicity
Phenylketonuria, Phenylketonuria, Phenylketonuria
Health Risk
RS1001642956
Likely pathogenic
Phenylketonuria, Phenylketonuria
Health Risk
RS1057516377
Likely pathogenic
Phenylketonuria, Phenylketonuria
Health Risk
All Variants (675)
RSID Category Clinical Significance Conditions
RS2136646301 Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2136646337 Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2136646367 Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2136649216 Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2136649263 Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2136649605 Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2136649777 Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2136663420 Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2136701578 Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2136701994 Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2136702049 Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2136728245 Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499521071 Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499521340 Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499521354 Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499542595 Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499542607 Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499546405 Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499546518 Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499611116 Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499613973 Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499614156 Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499614160 Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499615063 Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499615233 Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499617336 Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499621854 Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499623150 Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499623283 Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499623474 Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499623566 Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499625924 Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499625936 Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499626201 Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499626313 Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499636893 Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499636931 Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS2499637040 Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS281865165 Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS281865428 Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS281865429 Health Risk Pathogenic Phenylketonuria, Phenylketonuria, Phenylketonuria
RS281865430 Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS281865440 Health Risk Pathogenic Phenylketonuria, Phenylketonuria, Phenylketonuria
RS281865444 Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS281865447 Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS281865448 Health Risk Pathogenic Phenylketonuria, Mild hyperphenylalaninemia, Phenylketonuria
RS281865449 Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS281865455 Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS281865456 Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS398123294 Health Risk Pathogenic —
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