The UMD-MSH2 mutations database
Mutation c.IVS6-10T>A (c.1077-10T>A)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Acceptor
aatttatttcagAT
85.1 _
aaattatttcagAT
81.9 _
-3.8 %


     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
Sample IDMSH2MLH1MSH6MUTYHAPC
20_20-27472747-01--------

Complementary data about this mutation
AnalysisResult DateOriginPMID/dbSNP
Clinical phenotypeIndex case : appendix cancer at the age of 31 (20-2747-01). Maternal grandmother : colorectal cancer at the age of 73.28/08/1520 (Clermont-Ferrand)
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Biological significanceDate Comment
UV11/09/15---