The
UMD-FBN1
mutations database
Mutation
c.IVS17+2T>C (c.2167+2T>C)
Splice site type
Wild type sequence
CV
Mutant type sequence
CV
Variation (%)
Donor
GTGgtaagg
91.6
_
GTGgcaagg
64.7
_
*
-29.3 %
Data for this mutation
Experimental & complementary data: No data available