The UMD-FBN1 mutations database
Mutation c.IVS16-1G>C (c.2114-1G>C)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Acceptor
aatttattgcagCG
83.5 _
aatttattgcacCG
54.6 _ *
-34.7 %


     Data for this mutation

     Experimental & complementary data: No data available