The
UMD-FBN1
mutations database
Mutation
c.IVS39-1G>C (c.4943-1G>C)
Splice site type
Wild type sequence
CV
Mutant type sequence
CV
Variation (%)
Acceptor
tttggattatagAT
79.8
_
tttggattatacAT
50.8
_
*
-36.3 %
Data for this mutation
Experimental & complementary data: No data available