The UMD-MSH2 mutations database
Mutation c.IVS4-2A>C (c.793-2A>C)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Acceptor
tcttaattttagGT
84 _
tcttaattttcgGT
55 _ *
-34.5 %


     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
Sample IDMSH2MLH1MSH6MUTYHAPC
37_F07.017_5191_55701-----
37_F07.017_6438_61311-----
37_F07.017_8293_75062-----
37_L01.0420198138247/139900-----
37_L01.04_906_3133-----
37_L04.11_1774_22924-----
37_L04.11_2447_26542-----
37_L04.11_2589_28309-----
37_L04.11_2664_29029-----

Biological significanceDate Comment
Causal21/02/14---