The
UMD-FBN1
mutations database
Mutation
c.IVS46+5G>T (c.5788+5G>T)
Splice site type
Wild type sequence
CV
Mutant type sequence
CV
Variation (%)
Donor
TAGgtgcgt
88.1
_
TAGgtgctt
75.7
_
*
-14 %
Data for this mutation
Experimental & complementary data: No data available