The UMD-FBN1 mutations database
Mutation c.IVS54+1G>A (c.6739+1G>A)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Donor
AAGgtgagt
97.9 _
AAGatgagt
71.1 _ *
-27.4 %


     Data for this mutation

     Experimental & complementary data: No data available