The
UMD-FBN1
mutations database
Mutation
c.IVS52+5G>C (c.6496+5G>C)
Splice site type
Wild type sequence
CV
Mutant type sequence
CV
Variation (%)
Donor
TAGgtgagt
96.9
_
TAGgtgact
84.8
_
*
-12.4 %
Data for this mutation
Experimental & complementary data: No data available