The UMD-FBN1 mutations database
Mutation c.IVS18+5G>C (c.2293+5G>C)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Donor
TTGgtgaga
89.8 _
TTGgtgaca
77.8 _ *
-13.4 %


     Data for this mutation

     Experimental & complementary data: No data available