The UMD-FBN1 mutations database
Mutation c.IVS48+1G>C (c.6037+1G>C)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Donor
AAGggtagg
65.3 _
AAGcgtagg
38.4 _ *
-41.1 %


     Data for this mutation

     Experimental & complementary data: No data available