The UMD-MSH2 mutations database
Mutation c.IVS6-2A>C (c.1077-2A>C)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Acceptor
aatttatttcagAT
85.1 _
aatttatttccgAT
56.2 _ *
-34 %


     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
Sample IDMSH2MLH1MSH6MUTYHAPC
5_2006291_P0031215_AAB312-----

Complementary data about this mutation
AnalysisResult DateOriginPMID/dbSNP
In vitro analysisRT-PCR: loss of exon 7 (11 first nucleotides)9/12/135 (Bordeaux)
---


Biological significanceDate Comment
Causal21/02/14---