The UMD-MSH2 mutations database
Mutation c.IVS5-2A>C (c.943-2A>C)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Acceptor
tttgtttactagGG
83.4 _
tttgtttactcgGG
54.4 _ *
-34.7 %


     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
Sample IDMSH2MLH1MSH6MUTYHAPC
19_4500_4500-001_4500-001-----

Biological significanceDate Comment
Causal21/02/14---