The UMD-FBN1 mutations database
Mutation c.IVS42-2A>C (c.5297-2A>C)

Splice site type	Wild type sequence	CV	Mutant type sequence	CV	Variation (%)
Acceptor	ctctgtctctagAT	84.3 _	ctctgtctctcgAT	55.3 _ *	-34.3 %

     Data for this mutation

     Experimental & complementary data: No data available