The
UMD-FBN1
mutations database
Mutation
c.IVS48+1G>C (c.6037+1G>C)
Splice site type
Wild type sequence
CV
Mutant type sequence
CV
Variation (%)
Donor
AAGggtagg
65.3
_
AAGcgtagg
38.4
_
*
-41.1 %
Data for this mutation
Experimental & complementary data: No data available