The
UMD-FBN1
mutations database
Mutation
c.IVS52-1G>A (c.6497-1G>A)
Splice site type
Wild type sequence
CV
Mutant type sequence
CV
Variation (%)
Acceptor
ggtttcttgcagAT
88.2
_
ggtttcttgcaaAT
59.2
_
*
-32.8 %
Data for this mutation
Experimental & complementary data: No data available