The
UMD-FBN1
mutations database
Mutation
c.IVS16-1G>C (c.2114-1G>C)
Splice site type
Wild type sequence
CV
Mutant type sequence
CV
Variation (%)
Acceptor
aatttattgcagCG
83.5
_
aatttattgcacCG
54.6
_
*
-34.7 %
Data for this mutation
Experimental & complementary data: No data available