The
UMD-FBN1
mutations database
Mutation
c.IVS43+1G>A (c.5422+1G>A)
Splice site type
Wild type sequence
CV
Mutant type sequence
CV
Variation (%)
Donor
AAGgtaagt
99
_
AAGataagt
72.2
_
*
-27.1 %
Data for this mutation
Experimental & complementary data: No data available