The
UMD-FBN1
mutations database
Mutation
c.IVS44-2A>G (c.5546-2A>G)
Splice site type
Wild type sequence
CV
Mutant type sequence
CV
Variation (%)
Acceptor
tcttatttacagAT
90.8
_
tcttatttacggAT
61.8
_
*
-31.9 %
Data for this mutation
Experimental & complementary data: No data available