The
UMD-FBN1
mutations database
Mutation
c.IVS50+3A>G (c.6313+3A>G)
Splice site type
Wild type sequence
CV
Mutant type sequence
CV
Variation (%)
Donor
ATGgtatgt
88.2
_
ATGgtgtgt
77.2
_
*
-12.5 %
Data for this mutation
Experimental & complementary data: No data available