The
UMD-FBN1
mutations database
Mutation
c.IVS53-1G>T (c.6617-1G>T)
Splice site type
Wild type sequence
CV
Mutant type sequence
CV
Variation (%)
Acceptor
cctctgctgcagAT
88.7
_
cctctgctgcatAT
59.8
_
*
-32.6 %
Data for this mutation
Experimental & complementary data: No data available