The UMD-FBN1 mutations database
Mutation c.IVS2-7T>G (c.248-7T>G)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Cryptic Acceptor?
CCTCTGGTTTATTCA
46.6 _
CCTCTGGTTTAGTCA
75.5 _ *
38.3 %


     Data for this mutation

     Experimental & complementary data: No data available