The UMD-MEN1 mutations database
Mutation
c.IVS5+5G>A (c.824+5G>A)
| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
| AAGgtcagt |
| AAGgtcaat |
| -12.9 % |
 |
Data for this mutation
| Biological significance | Date | Comment |
|---|---|---|
| 5- Causal | 17/01/17 | splicing impact: exon 5 skipping (cDNA sequencing, unpublished data) |