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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8686823
Species: Homo sapiens
RGD Object: Variant
Symbol: CV137244
Name: NM_001127511.3(APC):c.78C>A (p.Ser26Arg)
Acc ID: DOID:0050424
Term: familial adenomatous polyposis
Definition: An intestinal disease that has_material_basis_in mutations in the APC gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Familial_adenomatous_polyposis "DO" "DO", http://www.omim.org/entry/175100?search=adenomatous%20polyposis "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)
CV137244 IAGP 8554872ClinVarClinVar Annotator: match by term: Familial multiple polyposis syndromePMID:24728327 PMID:25741868 PMID:28492532
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