The
UMD-FBN1
mutations database
Mutation
c.IVS18-1G>A (c.2294-1G>A)
Splice site type
Wild type sequence
CV
Mutant type sequence
CV
Variation (%)
Acceptor
ttgactttgcagAT
88.9
_
ttgactttgcaaAT
59.9
_
*
-32.6 %
Data for this mutation
Experimental & complementary data: No data available