The UMD-MSH2 mutations database
Mutation c.839dup



     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
Sample IDMSH2MLH1MSH6MUTYHAPC
19_2780027800-00127800-001-----
2_02-SG101-Cochin_431_431-----
38_780_ANA1_2069-----
38_780_ANA2_2233-----
38_780_ANA3_2234-----
7_39972548E040716-c.IVS14-19A>G (c.1668-19A>G)
c.655A>G (p.Ile219Val)
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7_39975195E060423-----

Complementary data about this mutation
AnalysisResult DateOriginPMID/dbSNP
Clinical phenotypeColon cancer at the age of 55 (27800-001)17/04/1519 (Rouen)
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MMR function in tumor cellsMSI / MLH1+MSH2+MSH6-PMS2+ (27800-001)17/04/1519 (Rouen)
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Biological significanceDate Comment
Causal21/02/14---