The UMD-MSH2 mutations database
Mutation c.IVS8+52G>C (c.1386+52G>C)



     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
Sample IDMSH2MLH1MSH6MUTYHAPC
2_02-DDM973838153214027503--c.IVS1+22C>G (c.260+22C>G)--

Complementary data about this mutation
AnalysisResult DateOriginPMID/dbSNP
Clinical phenotypeEnlarged Amsterdam I (02-DDM9738)1/07/142 (Villejuif)
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MMR function in tumor cellsMSI / MLH1+MSH2+MSH6+PMS2+ (02-DDM9738)1/07/142 (Villejuif)
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Biological significanceDate Comment
UV29/08/14---