The
UMD-FBN1
mutations database
Mutation
c.IVS18+1G>A (c.2293+1G>A)
Splice site type
Wild type sequence
CV
Mutant type sequence
CV
Variation (%)
Donor
TTGgtgaga
89.8
_
TTGatgaga
62.9
_
*
-29.9 %
Data for this mutation
Experimental & complementary data: No data available