The UMD-FBN1 mutations database
Mutation c.IVS43-1G>A (c.5423-1G>A)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Acceptor
ttctgctcgtagAT
83.8 _
ttctgctcgtaaAT
54.8 _ *
-34.6 %


     Data for this mutation

     Experimental & complementary data: No data available