The UMD-MSH2 mutations database
Mutation c.IVS7-11delCTT (c.1277-11delCTT)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Acceptor
actttcttttagGA
84.4 _
atcttttagGAAAA
46.9 _ *
-44.4 %


     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
Sample IDMSH2MLH1MSH6MUTYHAPC
14_NANTES?_04C065_04C065-----

Complementary data about this mutation
AnalysisResult DateOriginPMID/dbSNP
MMR function in tumor cellsMSS12/06/1431 (Montpellier)
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Clinical phenotypeSporadic colorectal cancer < 50 years old12/06/1414 (Nantes)
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Ex vivo analysisSplicing reporter minigene pCAS: normal splicing27/03/0919 (INSERM U1079-Rouen)
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Biological significanceDate Comment
Neutral13/12/11---