The
UMD-FBN1
mutations database
Mutation
c.IVS54+1G>A (c.6739+1G>A)
Splice site type
Wild type sequence
CV
Mutant type sequence
CV
Variation (%)
Donor
AAGgtgagt
97.9
_
AAGatgagt
71.1
_
*
-27.4 %
Data for this mutation
Experimental & complementary data: No data available