The
UMD-FBN1
mutations database
Mutation
c.IVS2+1G>A (c.247+1G>A)
Splice site type
Wild type sequence
CV
Mutant type sequence
CV
Variation (%)
Donor
TCCgtaagt
82.3
_
TCCataagt
55.4
_
*
-32.6 %
Data for this mutation
Experimental & complementary data: No data available