The
UMD-FBN1
mutations database
Mutation
c.IVS40-2A>G (c.5066-2A>G)
Splice site type
Wild type sequence
CV
Mutant type sequence
CV
Variation (%)
Acceptor
cctcccttctagAT
84.2
_
cctcccttctggAT
55.3
_
*
-34.4 %
Data for this mutation
Experimental & complementary data: No data available