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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8689620
Species: Homo sapiens
RGD Object: Variant
Symbol: CV139547
Name: NM_000179.3(MSH6):c.2384T>C (p.Ile795Thr)
Acc ID: DOID:0070272
Term: hereditary nonpolyposis colorectal cancer type 5
Definition: A Lynch syndrome that has_material_basis_in heterozygous mutation in the MSH6 gene on chromosome 2p16. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/9354786 "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)
CV139547 IAGP 8554872ClinVarClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5PMID:23104009 PMID:23621914 PMID:23755103 PMID:25085752 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28767289 PMID:29684080 PMID:33471991
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