The UMD-FBN1 mutations database
Mutation c.IVS2-3C>G (c.248-3C>G)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Acceptor
gtttattcacagCC
86.7 _
gtttattcagagCC
76.4 _ *
-11.9 %


     Data for this mutation

     Experimental & complementary data: No data available