TheUMD-MSH2 mutations database
Large rearrangement: c.367_1386del (deletion from exon 3 to 8)



Data for this mutation


Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
Sample IDMSH2MLH1MSH6MUTYHAPC
19_2443124431.00124431.001-----

Complementary data about this mutation
AnalysisResult DateOriginPMID/dbSNP
Clinical phenotypeSporadic colorectal cancer < 50 years old (24431.001)13/05/1419 (Rouen)
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MMR function in tumor cellsMSI / MLH1+MSH2-MSH6- (24431.001)13/05/1419 (Rouen)
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Biological significanceDate Comment
Causal22/05/14---



Consequences of the mutation at the protein level

No data available