The UMD-MSH2 mutations database
Mutation c.IVS11+9A>C (c.1759+9A>C)



     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
Sample IDMSH2MLH1MSH6MUTYHAPC
31_H782_H782-1_H782-1A-----

Complementary data about this mutation
AnalysisResult DateOriginPMID/dbSNP
Ex vivo analysisSplicing reporter minigene pCAS: normal splicing10/12/1219 (INSERM U1079-Rouen)
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MMR function in tumor cellsMSI-H / MLH1+-MSH2+MSH6+PMS2? (H782-1A)13/11/1431 (Montpellier)
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Clinical phenotypeSporadic late-onset (74) right colon cancer T4N0M0 (H782-1A)13/11/1431 (Montpellier)
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Biological significanceDate Comment
Neutral28/01/13---