The UMD-FBN1 mutations database
Mutation c.IVS38-2delA (c.4817-2delA)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Acceptor
tgattttgatagAT
76.5 _
tgattttgatgATT
17.4 _ *
-77.2 %


     Data for this mutation

     Experimental & complementary data: No data available