The
UMD-FBN1
mutations database
Mutation
c.IVS8-1G>C (c.989-1G>C)
Splice site type
Wild type sequence
CV
Mutant type sequence
CV
Variation (%)
Acceptor
ctttgtcctcagAT
91.1
_
ctttgtcctcacAT
62.2
_
*
-31.8 %
Data for this mutation
Experimental & complementary data: No data available