| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1183C>T | p.Gln395X | Heterozygous | CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CAG | Gln | TAG | Stop | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Ju,Pem,NM,RP,FA,HD | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| New restriction site(s): Alu I, Rma I Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 04-MA07-J05R- | Relative | Male | 33 |
| Phenotypic group | Disease |
| Please contact curator |
| Reference ID | PubMed ID | Reference |
| 16 | 16594911 | Lim, L. C., Tan, M. H., Eng, C., Teh, B. T., & Rajasoorya, R. C. (2006). Thymic carcinoid in multiple endocrine neoplasia 1: genotype-phenotype correlation and prevention. Journal of Internal Medicine, 259(4), 428?32.doi:10.1111/j.1365-2796.2006.01619.x |