The UMD-MSH2 mutations database
Mutation c.2106_2135del



     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
Sample IDMSH2MLH1MSH6MUTYHAPC
2_PLP-HEGP EXT57_15605_15-----
41_HNPCC109_HNPCC109001_-c.2014_2033del (p.Met672TyrfsX20)----

Complementary data about this mutation
AnalysisResult DateOriginPMID/dbSNP
Co-occurrenceMSH2 : c.2014_2033del, p.Met672TyrfsX20 (HNPCC109-001)25/06/1541 (HEGP)
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Clinical phenotypeAmsterdam II +10/12/1241 (HEGP)
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MMR function in tumor cellsMSH2-10/12/1241 (HEGP)
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Ex vivo analysisSplicing reporter minigene pCAS: normal splicing23/03/1219 (INSERM U1079-Rouen)
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Biological significanceDate Comment
Likely Causal9/07/15---