The UMD-MSH2 mutations database
Mutation c.IVS14-8T>G (c.2459-8T>G)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Acceptor
aatttcttatagGT
83.2 _
aattgcttatagGT
81.3 _
-2.3 %


     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
Sample IDMSH2MLH1MSH6MUTYHAPC
6_606058_200600376_S8890-----

Complementary data about this mutation
AnalysisResult DateOriginPMID/dbSNP
In vitro analysisRT-PCR : loss of exon 16 (IGR)20/09/106 (Toulouse)
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MMR function in tumor cellsMSH2-MSH6-20/09/106 (Toulouse)
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Biological significanceDate Comment
Causal13/12/11---