| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.249_252delGTCT | p.Ile85SerfsX33 | Heterozygous | CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CTG | Leu | del4c | Fs. | Stop at 117 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Sm, NM |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 04-BI03-S15F- | Relative | Male | 8 |
| Phenotypic group | Disease |
| asymptomatic | Please contact curator |
| Reference ID | PubMed ID | Reference |
| 8 | 9215690 | Lemmens, I., Van de Ven, W. J., Kas, K., Zhang, C. X., Giraud, S., Wautot, V., ? Thakker, R. V. (1997). Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1. Human Molecular Genetics, 6(7), 1177?83. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/9215690 |