The UMD-MSH2 mutations database
Mutation c.IVS7+2T>A (c.1276+2T>A)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Donor
AAGgtaaca
84.7 _
AAGgaaaca
57.9 _ *
-31.7 %


     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
Sample IDMSH2MLH1MSH6MUTYHAPC
17_F96015__2731-----
31_H1179_H1179-1_H1179-1A----
31_H1179_H1179-1_H1179-1B-----
4_H95H007_17764_600-----
4_JCS1403333444958-----

Complementary data about this mutation
AnalysisResult DateOriginPMID/dbSNP
MMR function in tumor cellsMSI-H / MSH2-MSH6- (JCS1403-33344)17/03/154 (Lyon)
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Biological significanceDate Comment
Causal21/02/14---