The UMD-MSH2 mutations database
Mutation c.1613delA



     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
Sample IDMSH2MLH1MSH6MUTYHAPC
31_H1290H1290-1H1290-1A-----
37_L14.199-E29382165211-----
37_L14.199-E29384165213-----

Complementary data about this mutation
AnalysisResult DateOriginPMID/dbSNP
Co-occurrenceMLH1 : c.-93G>A; p.? (H1290-1)31/03/1231 (Montpellier)
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Co-occurrenceMSH6 : c.3556+15T>A; p.? (H1290-1)31/03/1231 (Montpellier)
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MMR function in tumor cellsMSI-H / MLH1+MSH2-MSH6- (H1290-1)31/03/1231 (Montpellier)
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Clinical phenotypeAmsterdam I+ (H1290)31/03/1231 (Montpellier)
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Biological significanceDate Comment
Causal5/06/14---