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VARIANT - TERM ANNOTATION REPORT

RGD ID: 12848223
Species: Homo sapiens
RGD Object: Variant
Symbol: CV362876
Name: NM_005359.6(SMAD4):c.1051G>A (p.Asp351Asn)
Acc ID: DOID:9008443
Term: Colorectal Neoplasms
Definition: Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI.
Definition Source(s): MESH:D015179
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)
CV362876 IAGP 8554872ClinVarClinVar Annotator: match by term: Colorectal NeoplasmsPMID:10479724 PMID:10775259 PMID:12821112 PMID:14715079 PMID:17994767 PMID:8898652 PMID:9679244
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