The UMD-MSH2 mutations database
Mutation c.IVS7-2A>C (c.1277-2A>C)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Acceptor
actttcttttagGA
84.4 _
actttcttttcgGA
55.5 _ *
-34.3 %


     Data for this mutation

Co occurence of MLH1, MSH2, MSH6, MUTYH and APC mutations (Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
Sample IDMSH2MLH1MSH6MUTYHAPC
20_20-1503_1503-14_5054c.339G>A (p.Lys113Lys)----

Biological significanceDate Comment
Causal21/02/14---