The UMD-FBN1 mutations database
Mutation c.IVS1+2113del1delG (c.164+2113del1delG)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Cryptic Donor?
GAAtgtatt
16.7 _
AATgtattg
65.1 _ *
74.4 %


     Data for this mutation

     Experimental & complementary data: No data available