The UMD-MSH2 mutations database
Mutation c.IVS13-51A>G (c.2211-51A>G)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Cryptic Donor?
tatgtgtat
65 _
tatgtgtgt
77.2 _ *
15.8 %


     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
Sample IDMSH2MLH1MSH6MUTYHAPC
2_02-NJ21_718_718c.2009C>T (p.Pro670Leu)-c.IVS1+22C>G (c.260+22C>G)
c.IVS2+52T>A (c.457+52T>A)
c.186C>A (p.Arg62Arg)
c.276A>G (p.Pro92Pro)
c.540T>C (p.Asp180Asp)
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Complementary data about this mutation
AnalysisResult DateOriginPMID/dbSNP
Co-occurrenceMSH6:c.755C>A, p.Ser252X (Patient A)19/09/092 (Villejuif)
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Ex vivo analysisSplicing reporter minigene pCAS: normal splicing29/09/0919 (INSERM U1079-Rouen)
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Biological significanceDate Comment
Neutral29/09/09---