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VARIANT - TERM ANNOTATION REPORT

RGD ID: 21071298
Species: Homo sapiens
RGD Object: Variant
Symbol: CV794551
Name: NM_032409.3(PINK1):c.745T>G (p.Leu249Val)
Acc ID: DOID:0060369
Term: Parkinson's disease 6
Definition: An early-onset Parkinson's disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/22315721 "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)
CV794551 IAGP 8554872ClinVarClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6PMID:25741868 PMID:28492532 PMID:28849312
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