The
UMD-FBN1
mutations database
Mutation
c.IVS46+5G>A (c.5788+5G>A)
Splice site type
Wild type sequence
CV
Mutant type sequence
CV
Variation (%)
Donor
TAGgtgcgt
88.1
_
TAGgtgcat
75.9
_
*
-13.8 %
Data for this mutation
Experimental & complementary data: No data available