The UMD-FBN1 mutations database
Mutation c.IVS5-1G>A (c.539-1G>A)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Acceptor
ctttattttcagAT
91.3 _
ctttattttcaaAT
62.3 _ *
-31.7 %


     Data for this mutation

     Experimental & complementary data: No data available