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