The
UMD-FBN1
mutations database
Mutation
c.IVS47-1G>C (c.5918-1G>C)
Splice site type
Wild type sequence
CV
Mutant type sequence
CV
Variation (%)
Acceptor
ttttctttgcagAT
95.2
_
ttttctttgcacAT
66.2
_
*
-30.4 %
Data for this mutation
Experimental & complementary data: No data available