The
UMD-MEN1
mutations database
Mutation
c.IVS7+2T>C (c.1049+2T>C)
Splice site type
Wild type sequence
CV
Mutant type sequence
CV
Variation (%)
Donor
GGAgtgagg
79.7
_
GGAgcgagg
52.9
_
*
-33.7 %
Data for this mutation
Biological significance
Date
Comment
5- Causal
17/12/15
NC