The UMD-MSH2 mutations database
Mutation c.IVS13-1G>A (c.2211-1G>A)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Acceptor
tatgtgcttcagGT
89.1 _
tatgtgcttcaaGT
60.1 _ *
-32.5 %


     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
Sample IDMSH2MLH1MSH6MUTYHAPC
5_2010454_20100088_AAE470-----

Complementary data about this mutation
AnalysisResult DateOriginPMID/dbSNP
In vitro analysisRT-PCR: complete loss of exon 149/12/135 (Bordeaux)
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Biological significanceDate Comment
Causal21/02/14---