The UMD-MSH2 mutations database
Mutation c.IVS11-55A>G (c.1760-55A>G)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Cryptic Donor?
tatatctgt
46.5 _
tatgtctgt
73.3 _ *
36.6 %


     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-DDM1050634872213085417-----

Complementary data about this mutation
AnalysisResult DateOriginPMID/dbSNP
Clinical phenotypeSporadic Lynch-related (cardia) cancer < 50 years old (02-DDM10506)1/07/142 (Villejuif)
---


Biological significanceDate Comment
UV29/08/14---