The
UMD-FBN1
mutations database
Mutation
c.IVS53+1G>C (c.6616+1G>C)
Splice site type
Wild type sequence
CV
Mutant type sequence
CV
Variation (%)
Donor
AAGgtacat
78.1
_
AAGctacat
51.2
_
*
-34.4 %
Data for this mutation
Experimental & complementary data: No data available