The
UMD-FBN1
mutations database
Mutation
c.IVS16+3A>C (c.2113+3A>C)
Splice site type
Wild type sequence
CV
Mutant type sequence
CV
Variation (%)
Donor
CAGgtatgt
100
_
CAGgtctgt
87.4
_
*
-12.6 %
Data for this mutation
Experimental & complementary data: No data available