The UMD-FBN1 mutations database
Mutation c.IVS17+2T>C (c.2167+2T>C)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Donor
GTGgtaagg
91.6 _
GTGgcaagg
64.7 _ *
-29.3 %


     Data for this mutation

     Experimental & complementary data: No data available