The UMD-FBN1 mutations database
Mutation c.IVS17-2A>G (c.2168-2A>G)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Acceptor
tttgtggtgcagAT
86.4 _
tttgtggtgcggAT
57.5 _ *
-33.5 %


     Data for this mutation

     Experimental & complementary data: No data available