The
UMD-FBN1
mutations database
Mutation
c.IVS39+1G>A (c.4942+1G>A)
Splice site type
Wild type sequence
CV
Mutant type sequence
CV
Variation (%)
Donor
ATGgtaaat
82.1
_
ATGataaat
55.3
_
*
-32.7 %
Data for this mutation
Experimental & complementary data: No data available