The
UMD-FBN1
mutations database
Mutation
c.IVS3-2A>G (c.347-2A>G)
Splice site type
Wild type sequence
CV
Mutant type sequence
CV
Variation (%)
Acceptor
ttttttttcaagTA
83.9
_
ttttttttcaggTA
54.9
_
*
-34.5 %
Data for this mutation
Experimental & complementary data: No data available