The
UMD-FBN1
mutations database
Mutation
c.IVS43-1G>A (c.5423-1G>A)
Splice site type
Wild type sequence
CV
Mutant type sequence
CV
Variation (%)
Acceptor
ttctgctcgtagAT
83.8
_
ttctgctcgtaaAT
54.8
_
*
-34.6 %
Data for this mutation
Experimental & complementary data: No data available