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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8648406
Species: Homo sapiens
RGD Object: Variant
Symbol: CV108559
Name: NM_000277.3(PAH):c.754C>G (p.Arg252Gly)
Acc ID: DOID:9281
Term: phenylketonuria
Definition: An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Phenylketonuria "DO" "DO", https://www.genome.gov/Genetic-Disorders/Phenylketonuria "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
CV108559 IAGP 8554872ClinVarClinVar Annotator: match by term: PhenylketonuriaPMID:10394930 PMID:1363786 PMID:17924342 PMID:22526846 PMID:25741868 PMID:28982351 PMID:9634518 PMID:9799096
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