| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.292C>T | p.Arg98X | 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 |
| Sm, NM | Yes, coding strand | Yes |
| At the mRNA level | On restriction map |
| New restriction site(s): Bgl II, Dde I Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 01-FI05-S01N- | Proband | Female | 31 |
| Phenotypic group | Disease |
| Please contact curator |
| Reference ID | PubMed ID | Reference |
| 4 | 9241276 | Heppner, C., Kester, M. B., Agarwal, S. K., Debelenko, L. V, Emmert-Buck, M. R., Guru, S. C., ? Marx, S. J. (1997). Somatic mutation of the MEN1 gene in parathyroid tumours. Nature Genetics, 16(4), 375?8. doi:10.1038/ng0897-375 |