The
UMD-FBN1
mutations database
Mutation
c.IVS41-2A>C (c.5225-2A>C)
Splice site type
Wild type sequence
CV
Mutant type sequence
CV
Variation (%)
Acceptor
taatcattgcagAT
85.9
_
taatcattgccgAT
57
_
*
-33.7 %
Data for this mutation
Experimental & complementary data: No data available