The UMD-MSH2 mutations database
Mutation c.IVS7+11A>G (c.1276+11A>G)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Cryptic Donor?
gtgattttg
38.6 _
gtggttttg
65.4 _ *
41 %


     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
Sample IDMSH2MLH1MSH6MUTYHAPC
19_14769_14769-001_14769-c.336C>A (p.Ser112Ser)----

Complementary data about this mutation
AnalysisResult DateOriginPMID/dbSNP
Co-occurrenceMSH2 : c.336C>A, p.=26/09/1119 (Rouen)
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Ex vivo analysisSplicing reporter minigene pCAS: normal splicing26/09/1119 (INSERM U1079-Rouen)
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Biological significanceDate Comment
Neutral26/09/11---