The UMD-FBN1 mutations database
Mutation c.IVS38-2A>C (c.4817-2A>C)

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

     Data for this mutation

     Experimental & complementary data: No data available