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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8686836
Species: Homo sapiens
RGD Object: Variant
Symbol: CV137258
Name: NM_000038.6(APC):c.3875C>T (p.Thr1292Met)
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)
CV137258 IAGP 8554872ClinVarClinVar Annotator: match by term: Familial adenomatous polyposis 1PMID:1338764 PMID:22875147 PMID:23274167 PMID:24728327 PMID:25186627 PMID:25559809 PMID:25741868 PMID:25742471 PMID:26467025 PMID:26650777 PMID:27077911 PMID:27684187 PMID:28135145 PMID:28492532 PMID:28548127 PMID:31269945
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