The UMD-FBN1 mutations database
Mutation c.IVS40-2A>G (c.5066-2A>G)


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


     Data for this mutation

     Experimental & complementary data: No data available