| 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-GR05-L01U- | Relative | Female | 10 |
| Phenotypic group | Disease |
| Please contact curator |
| Reference ID | PubMed ID | Reference |
| 6 | 9463336 | Bassett, J. H., Forbes, S. A., Pannett, A. A., Lloyd, S. E., Christie, P. T., Wooding, C., Thakker, R. V. (1998). Characterization of mutations in patients with multiple endocrine neoplasia type 1. American Journal of Human Genetics, 62(2), 232?44. doi:10.1086/301729 |