TheUMD-MSH2 mutations database
Large rearrangement: c.212_366del (deletion from exon 2 to 2)



Data for this mutation


Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
Sample IDMSH2MLH1MSH6MUTYHAPC
8_431121473408-521111EGS-----

Complementary data about this mutation
AnalysisResult DateOriginPMID/dbSNP
Clinical phenotypeSporadic colorectal cancer < 50 years old (43112-14734)27/04/128 (Nancy)
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MMR function in tumor cellsMSI-H / MSH2-MSH6- (43112-14734)27/04/128 (Nancy)
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Biological significanceDate Comment
Causal5/06/14---



Consequences of the mutation at the protein level

No data available