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VARIANT - TERM ANNOTATION REPORT

RGD ID: 11092025
Species: Homo sapiens
RGD Object: Variant
Symbol: CV232524
Name: NM_000251.3(MSH2):c.272A>T (p.Asp91Val)
Acc ID: DOID:0050465
Term: Muir-Torre syndrome
Definition: A Lynch syndrome that is characterized by a propensity to develop cancers of the gastrointestinal tract, genitourinary tract, and skin that has_material_basis_in mutations in DNA mismatch repair genes. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/Muir%E2%80%93Torre_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)
CV232524 IAGP 8554872ClinVarClinVar Annotator: match by term: Muir-Torré syndromePMID:25741868 PMID:28492532 PMID:33357406
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