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 significance
Date
Comment
4- Likely Causal
4/01/16
NC