The
UMD-FBN1
mutations database
Mutation
c.IVS57+1G>C (c.7204+1G>C)
Splice site type
Wild type sequence
CV
Mutant type sequence
CV
Variation (%)
Donor
CAGgtactt
78.9
_
CAGctactt
52
_
*
-34 %
Data for this mutation
Experimental & complementary data: No data available