The
UMD-FBN1
mutations database
Mutation
c.IVS50+1G>A (c.6313+1G>A)
Splice site type
Wild type sequence
CV
Mutant type sequence
CV
Variation (%)
Donor
ATGgtatgt
85.5
_
ATGatatgt
58.7
_
*
-31.4 %
Data for this mutation
Experimental & complementary data: No data available