The UMD-FBN1 mutations database
Mutation c.IVS18+2T>C (c.2293+2T>C)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Donor
TTGgtgaga
89.8 _
TTGgcgaga
62.9 _ *
-29.9 %


     Data for this mutation

     Experimental & complementary data: No data available