The UMD-MSH2 mutations database
Mutation c.IVS6+5G>T (c.1076+5G>T)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Donor
GAGgtatgt
89.4 _
GAGgtattt
77.1 _ *
-13.8 %


     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
Sample IDMSH2MLH1MSH6MUTYHAPC
19_2459224592-00124592-001c.IVS9-29T>C (c.1511-29T>C)----

Complementary data about this mutation
AnalysisResult DateOriginPMID/dbSNP
Co-occurrenceMSH2 : c.1511-29T>C (24592-001)17/04/1519 (Rouen)
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Clinical phenotypeSporadic colon cancer at the age of 32 (24592-001)17/04/1519 (Rouen)
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Biological significanceDate Comment
UV23/04/15---