The UMD-MSH2 mutations database
Mutation c.388C>T



     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
Sample IDMSH2MLH1MSH6MUTYHAPC
4_CH1009250863219-----
6_610113_B68566_S9442-----
8_443967918908-646021EGS-----

Complementary data about this mutation
AnalysisResult DateOriginPMID/dbSNP
Clinical phenotypeMultiple Lynch-related cancers (endometrium + colon) < 50 years old (1 patient : 44396-79189)27/04/128 (Nancy)
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MMR function in tumor cellsMSI-H (colon) (44396-79189)27/04/128 (Nancy)
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Biological significanceDate Comment
Causal21/02/14---