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VARIANT - TERM ANNOTATION REPORT

RGD ID: 9853299
Species: Homo sapiens
RGD Object: Variant
Symbol: CV181896
Name: NM_000251.3(MSH2):c.123C>G (p.Asp41Glu)
Acc ID: DOID:3883
Term: Lynch syndrome
Definition: A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Hereditary_nonpolyposis_colorectal_cancer "DO" "DO", http://ghr.nlm.nih.gov/condition/lynch-syndrome "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)
CV181896 IAGP 8554872ClinVarClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasmsPMID:25085752 PMID:25741868 PMID:26467025 PMID:28492532 PMID:33357406
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