The UMD-FBN1 mutations database
Mutation c.IVS47-1G>C (c.5918-1G>C)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Acceptor
ttttctttgcagAT
95.2 _
ttttctttgcacAT
66.2 _ *
-30.4 %


     Data for this mutation

     Experimental & complementary data: No data available