The
UMD-FBN1
mutations database
Mutation
c.IVS56-2A>C (c.6998-2A>C)
Splice site type
Wild type sequence
CV
Mutant type sequence
CV
Variation (%)
Acceptor
tgtcccttccagAC
90.5
_
tgtcccttcccgAC
61.6
_
*
-32 %
Data for this mutation
Experimental & complementary data: No data available