The UMD-MEN1 mutations database
Mutation
c.IVS7+4A>T (c.1049+4A>T)
| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
| GGAgtgagg |
| GGAgtgtgg |
| -11 % |
 |
Data for this mutation
| Biological significance | Date | Comment |
|---|---|---|
| 4- Likely Causal | 17/12/15 | Splicing impact: partial inclusion of intron 7 (cDNA sequencing , unpublished data ) |