| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1378C>T | p.Arg460X | Heterozygous | CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CGA | Arg | TGA | Stop | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Pem,NM,CH | Yes, coding strand | Yes |
| At the mRNA level | On restriction map |
| New restriction site(s): Alu I, Dde I Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 03-BA18-V09R- | Proband | Female | 43 |
| Phenotypic group | Disease |
| Moderate | Please contact curator |
| Reference ID | PubMed ID | Reference |
| 21 | 15635078 | Medical genetics in practice: A report of a national mutation testing service for the MEN1 gene: clinical presentations and implications for mutation testing J W Cardinal, L Bergman, N Hayward, A Sweet, J Warner, L Marks, D Learoyd, T Dwight, B Robinson, M Epstein, M Smith, B T Teh, D P Cameron, J B Prins J Med Genet 2005;42:1 69-74 doi:10.1136/jmg.2003.017319 |