The
UMD-FBN1
mutations database
Mutation
c.IVS39+2T>C (c.4942+2T>C)
Splice site type
Wild type sequence
CV
Mutant type sequence
CV
Variation (%)
Donor
ATGgtaaat
82.1
_
ATGgcaaat
55.3
_
*
-32.7 %
Data for this mutation
Experimental & complementary data: No data available