The
UMD-FBN1
mutations database
Mutation
c.IVS17-2A>G (c.2168-2A>G)
Splice site type
Wild type sequence
CV
Mutant type sequence
CV
Variation (%)
Acceptor
tttgtggtgcagAT
86.4
_
tttgtggtgcggAT
57.5
_
*
-33.5 %
Data for this mutation
Experimental & complementary data: No data available