| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1546delC | p.Arg516GlyfsX43 | Heterozygous | CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CGG | Arg | del1a | Fs. | Stop at 558 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Sm3,CH |
| 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-LE02-A12E- | Proband | Male | 18 |
| Phenotypic group | Disease |
| Supporting | Please contact curator |
| Reference ID | PubMed ID | Reference |
| 2 | 9215689 | Agarwal, S. K., Kester, M. B., Debelenko, L. V, Heppner, C., Emmert-Buck, M. R., Skarulis, M. C., ? Marx, S. J. (1997). Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states. Human Molecular Genetics, 6(7), 1169?75. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/9215689 |