The UMD-FBN1 mutations database
Mutation c.IVS56-2A>C (c.6998-2A>C)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Acceptor
tgtcccttccagAC
90.5 _
tgtcccttcccgAC
61.6 _ *
-32 %


     Data for this mutation

     Experimental & complementary data: No data available