The
UMD-FBN1
mutations database
Mutation
c.IVS23+1G>A (c.2854+1G>A)
Splice site type
Wild type sequence
CV
Mutant type sequence
CV
Variation (%)
Donor
TTGgtaaat
81.1
_
TTGataaat
54.3
_
*
-33.1 %
Data for this mutation
Experimental & complementary data: No data available