The UMD-MSH2 mutations database
Mutation c.1183C>T



     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
Sample IDMSH2MLH1MSH6MUTYHAPC
19_2663926639-00126639-001-----
2_02-OCN1338542933215079443-----

Complementary data about this mutation
AnalysisResult DateOriginPMID/dbSNP
Clinical phenotypeIC : right colon cancer at the age of 57, endometrium cancer at the age of 58, duodenum cancer at the age of 62 (26639-001)17/04/1519 (Rouen)
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MMR function in tumor cellsMSI / MSH2-MSH6- (26639-001, colon)17/04/1519 (Rouen)
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MMR function in tumor cellsMSS / MSH2- (26639-001, endometrium)17/04/1519 (Rouen)
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MMR function in tumor cellsMSI / MSH2-MSH6- (26639-001, duodenum)17/04/1519 (Rouen)
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Segregation analysisAsymptomatic variant carrier at the age of 36 (index case's daughter, 02-OCN13385-42933)1/09/152 (Villejuif)
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Biological significanceDate Comment
Causal23/04/15---