The UMD-FBN1 mutations database
Mutation c.IVS52-1G>A (c.6497-1G>A)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Acceptor
ggtttcttgcagAT
88.2 _
ggtttcttgcaaAT
59.2 _ *
-32.8 %


     Data for this mutation

     Experimental & complementary data: No data available