The
UMD-FBN1
mutations database
Mutation
c.IVS18+5G>C (c.2293+5G>C)
Splice site type
Wild type sequence
CV
Mutant type sequence
CV
Variation (%)
Donor
TTGgtgaga
89.8
_
TTGgtgaca
77.8
_
*
-13.4 %
Data for this mutation
Experimental & complementary data: No data available