The
UMD-FBN1
mutations database
Mutation
c.IVS2-7T>G (c.248-7T>G)
Splice site type
Wild type sequence
CV
Mutant type sequence
CV
Variation (%)
Cryptic Acceptor?
CCTCTGGTTTATTCA
46.6
_
CCTCTGGTTTAGTCA
75.5
_
*
38.3 %
Data for this mutation
Experimental & complementary data: No data available