The UMD-FBN1 mutations database
Mutation c.IVS39-1G>C (c.4943-1G>C)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Acceptor
tttggattatagAT
79.8 _
tttggattatacAT
50.8 _ *
-36.3 %


     Data for this mutation

     Experimental & complementary data: No data available