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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8595160
Species: Homo sapiens
RGD Object: Variant
Symbol: CV15853
Name: NM_000038.6(APC):c.643C>T (p.Gln215Ter)
Acc ID: DOID:0111349
Term: hereditary desmoid disease
Definition: A syndrome characterized by extraintestinal manifestation of familial adenomatous polyposis that has_material_basis_in in some cases by extreme 3' mutation in APC on 5q22.2. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10782927 "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)
CV15853 IAGP 8554872ClinVarClinVar Annotator: match by term: Desmoid disease, hereditaryPMID:1316610 PMID:17963004 PMID:20685668 PMID:25741868 PMID:28492532 PMID:28944238 PMID:7661930
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