Gene entry
PAH
phenylalanine hydroxylase
- Chromosome
- 12
- Cytoband
- 12q23.2
- Variants (rsID)
- 111
PAH is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 12 (region 12q23.2). Its official name is “phenylalanine hydroxylase”. The reference table lists 111 variants (rsID) for this gene.
Clinically classified variants
89 reference-table entries with clinical significance.
- rs12580432Benignsingle nucleotide variantPhenylketonuria
- rs62509021Benignsingle nucleotide variantPhenylketonuria
- rs118203923Likely pathogenicsingle nucleotide variantPhenylketonuria
- rs140175796Likely pathogenicsingle nucleotide variantPhenylketonuria|See cases
- rs199475679Likely pathogenicsingle nucleotide variantPhenylketonuria|6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
- rs5030851Likely pathogenicsingle nucleotide variantPhenylketonuria|Inborn genetic diseases
- rs62507288Likely pathogenicsingle nucleotide variantPhenylketonuria
- rs62507324Likely pathogenicsingle nucleotide variantPhenylketonuria
- rs62508578Likely pathogenicsingle nucleotide variantPhenylketonuria
- rs62508695Likely pathogenicsingle nucleotide variantPhenylketonuria
- rs62514934Likely pathogenicsingle nucleotide variantPhenylketonuria
- rs62514953Likely pathogenicsingle nucleotide variantPhenylketonuria
- rs62514958Likely pathogenicsingle nucleotide variantMild non-PKU hyperphenylalanemia|Phenylketonuria|See cases
- rs62516147Likely pathogenicsingle nucleotide variantPhenylketonuria
- rs62516152Likely pathogenicsingle nucleotide variantPhenylketonuria
- rs62517167Likely pathogenicsingle nucleotide variantMild non-PKU hyperphenylalanemia|Phenylketonuria
- rs118203921Pathogenicsingle nucleotide variantPhenylketonuria
- rs199475575Pathogenicsingle nucleotide variantPhenylketonuria
- rs199475598Pathogenicsingle nucleotide variantPhenylketonuria|Hyperphenylalaninemia|See cases
- rs199475602Pathogenicsingle nucleotide variantPhenylketonuria|Hyperphenylalaninemia
- rs199475606Pathogenicsingle nucleotide variantPhenylketonuria
- rs199475615Pathogenicsingle nucleotide variantPhenylketonuria
- rs199475661PathogenicDeletionPhenylketonuria
- rs281865448Pathogenicsingle nucleotide variantPhenylketonuria
- rs5030841Pathogenicsingle nucleotide variantPhenylketonuria
- rs5030843Pathogenicsingle nucleotide variantPhenylketonuria
- rs5030845Pathogenicsingle nucleotide variantPhenylketonuria
- rs5030846Pathogenicsingle nucleotide variantPhenylketonuria
- rs5030847Pathogenicsingle nucleotide variantPhenylketonuria|See cases
- rs5030849Pathogenicsingle nucleotide variantPhenylketonuria
- rs5030853Pathogenicsingle nucleotide variantPhenylketonuria|Hyperphenylalaninemia|Inborn genetic diseases
- rs5030855Pathogenicsingle nucleotide variantPhenylketonuria
- rs5030856Pathogenicsingle nucleotide variantHyperphenylalaninemia|Phenylketonuria
- rs5030857Pathogenicsingle nucleotide variantPhenylketonuria|Inborn genetic diseases
- rs5030858Pathogenicsingle nucleotide variantPhenylketonuria|Reduced phenylalanine hydroxylase level
- rs5030859Pathogenicsingle nucleotide variantPhenylketonuria
- rs5030860Pathogenicsingle nucleotide variantHyperphenylalaninemia|Phenylketonuria|Reduced phenylalanine hydroxylase level
- rs5030861Pathogenicsingle nucleotide variantPhenylketonuria|Inborn genetic diseases
- rs62507321Pathogenicsingle nucleotide variantPhenylketonuria
- rs62507322Pathogenicsingle nucleotide variantPhenylketonuria
- rs62507344Pathogenicsingle nucleotide variantPhenylketonuria
- rs62508588Pathogenicsingle nucleotide variantPhenylketonuria|Inborn genetic diseases
- rs62508613Pathogenicsingle nucleotide variantPhenylketonuria
- rs62508628Pathogenicsingle nucleotide variant
- rs62508646Pathogenicsingle nucleotide variantPhenylketonuria
- rs62508682Pathogenicsingle nucleotide variantPhenylketonuria
- rs62508687PathogenicDeletionPhenylketonuria
- rs62508692Pathogenicsingle nucleotide variantPhenylketonuria
- rs62508694Pathogenicsingle nucleotide variantPhenylketonuria
- rs62508698Pathogenicsingle nucleotide variantPhenylketonuria
- rs62509013Pathogenicsingle nucleotide variantPhenylketonuria
- rs62514895Pathogenicsingle nucleotide variantPhenylketonuria|Inborn genetic diseases
- rs62514902Pathogenicsingle nucleotide variantPhenylketonuria
- rs62514907Pathogenicsingle nucleotide variantPhenylketonuria
- rs62514909Pathogenicsingle nucleotide variantPhenylketonuria|6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
- rs62514927Pathogenicsingle nucleotide variantPhenylketonuria
- rs62514928Pathogenicsingle nucleotide variantPhenylketonuria
- rs62514950Pathogenicsingle nucleotide variantPhenylketonuria
- rs62514952Pathogenicsingle nucleotide variantPhenylketonuria
- rs62514956Pathogenicsingle nucleotide variantPhenylketonuria
- rs62516092Pathogenicsingle nucleotide variantPhenylketonuria|See cases
- rs62516094PathogenicDeletionPhenylketonuria
- rs62516101Pathogenicsingle nucleotide variantPhenylketonuria
- rs62516109Pathogenicsingle nucleotide variantPhenylketonuria
- rs62516141Pathogenicsingle nucleotide variantPhenylketonuria
- rs62516146Pathogenicsingle nucleotide variantPhenylketonuria
- rs62516151Pathogenicsingle nucleotide variantHyperphenylalaninemia|Phenylketonuria
- rs62517166Pathogenicsingle nucleotide variantPhenylketonuria
- rs62642926Pathogenicsingle nucleotide variantPhenylketonuria
- rs62642929Pathogenicsingle nucleotide variantPhenylketonuria
- rs62642933Pathogenicsingle nucleotide variantPhenylketonuria
- rs62642934Pathogenicsingle nucleotide variantHyperphenylalaninemia|Phenylketonuria
- rs62642936Pathogenicsingle nucleotide variantPhenylketonuria
- rs62642937Pathogenicsingle nucleotide variantHyperphenylalaninemia|Phenylketonuria|Marfanoid habitus and intellectual disability|6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
- rs62642939Pathogenicsingle nucleotide variantPhenylketonuria|Hyperphenylalaninemia
- rs62644499Pathogenicsingle nucleotide variantHyperphenylalaninemia|Phenylketonuria
- rs62644503Pathogenicsingle nucleotide variantPhenylketonuria
- rs74486803Pathogenicsingle nucleotide variantHyperphenylalaninemia|Phenylketonuria|6-Pyruvoyl-tetrahydrobiopterin synthase deficiency|See cases
- rs74503222Pathogenicsingle nucleotide variantPhenylketonuria
- rs74603784Pathogenicsingle nucleotide variantPhenylketonuria
- rs75193786Pathogenicsingle nucleotide variantPhenylketonuria|See cases
- rs76212747Pathogenicsingle nucleotide variantHyperphenylalaninemia|Phenylketonuria
- rs76296470Pathogenicsingle nucleotide variantPhenylketonuria
- rs76394784Pathogenicsingle nucleotide variantPhenylketonuria
- rs76687508Pathogenicsingle nucleotide variantPhenylketonuria
- rs78655458Pathogenicsingle nucleotide variantPhenylketonuria
- rs79931499Pathogenicsingle nucleotide variantPhenylketonuria
- rs118092776Uncertain significancesingle nucleotide variantPhenylketonuria
- rs199475681Uncertain significancesingle nucleotide variantPhenylketonuria
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.