The UMD-MSH2 mutations database
Mutation c.IVS2+1G>T (c.366+1G>T)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Donor
AAGgtaatt
86.7 _
AAGttaatt
59.9 _ *
-30.9 %


     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
Sample IDMSH2MLH1MSH6MUTYHAPC
37_E-L02.03_1395_10711-----
5_20003242_20031073_AAA33-----
5_2003242_20031073_AAA335-----
8_43911_76721_08-392311EG-----

Complementary data about this mutation
AnalysisResult DateOriginPMID/dbSNP
In vitro analysisRT-PCR: complete loss of exon 29/12/135 (Bordeaux)
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Biological significanceDate Comment
Causal21/02/14---