The UMD-MSH2 mutations database
Mutation c.IVS5+3A>C (c.942+3A>C)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Donor
CAGgtaaaa
99.2 _
CAGgtcaaa
81.1 _ *
-18.2 %


     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
Sample IDMSH2MLH1MSH6MUTYHAPC
4_11194267663654-----

Complementary data about this mutation
AnalysisResult DateOriginPMID/dbSNP
In vitro analysisRT-PCR : loss of exon 526/03/124 (Lyon)
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Clinical phenotypeAmsterdam I+26/03/124 (Lyon)
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Biological significanceDate Comment
Causal26/03/12---