The UMD-FBN1 mutations database
Mutation c.IVS50+2delTAT (c.6313+2delTAT)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Donor
ATGgtatgt
85.5 _
ATGggtatg
48.2 _ *
-43.6 %


     Data for this mutation

     Experimental & complementary data: No data available