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VARIANT - TERM ANNOTATION REPORT

RGD ID: 12893092
Species: Homo sapiens
RGD Object: Variant
Symbol: CV394317
Name: NM_000038.6(APC):c.3535T>A (p.Tyr1179Asn)
Acc ID: DOID:0080409
Term: familial adenomatous polyposis 1
Definition: A familial adenomatous polyposis that has_material_basis_in heterozygous mutation in the APC gene on chromosome 5q22. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/familial-adenomatous-polyposis "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/1651563 "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)
CV394317 IAGP 8554872ClinVarClinVar Annotator: match by term: Familial adenomatous polyposis 1PMID:25741868 PMID:25980754 PMID:28492532
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