The
UMD-FBN1
mutations database
Mutation
c.IVS30+1G>A (c.3838+1G>A)
Splice site type
Wild type sequence
CV
Mutant type sequence
CV
Variation (%)
Donor
TAGgtaagc
95.8
_
TAGataagc
69
_
*
-28 %
Data for this mutation
Experimental & complementary data: No data available