The UMD-FBN1 mutations database
Mutation c.IVS40-1G>A (c.5066-1G>A)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Acceptor
cctcccttctagAT
84.2 _
cctcccttctaaAT
55.3 _ *
-34.4 %


     Data for this mutation

     Experimental & complementary data: No data available