The UMD-MEN1 mutations database
Mutation c.IVS7-2A>C (c.1050-2A>C)


Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Acceptor
ctgctctcacagCT
87.6 _
ctgctctcaccgCT
58.7 _ *
-33 %


     Data for this mutation

Biological significanceDate Comment
4- Likely Causal4/01/16NC