The UMD-FBN1 mutations database
Mutation c.IVS38-1G>A (c.4817-1G>A)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Acceptor
tgattttgatagAT
76.5 _
tgattttgataaAT
47.5 _ *
-37.9 %


     Data for this mutation

     Experimental & complementary data: No data available