The UMD-FBN1 mutations database
Mutation c.IVS43-30del3 (c.5423-30del3)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Cryptic Acceptor?
CTCCTTCAAATTCAG
19.5 _
CTTCAAATTCAGTTC
84 _ *
76.8 %


     Data for this mutation

     Experimental & complementary data: No data available