| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.628_631delACAG | p.Thr210SerfsX13 | Heterozygous | CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ACA | Thr | del4a | Fs. | Stop at 222 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Ju,Sm,NMH,HD,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-GA04-L21C- | Relative | Female | 19 |
| Phenotypic group | Disease |
| Please contact curator |
| Reference ID | PubMed ID | Reference |
| 11 | 9709921 | Teh, B. T., Kyt*l*, S., Farnebo, F., Bergman, L., Wong, F. K., Weber, G., ? Salmela, P. (1998). Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism. The Journal of Clinical Endocrinology and Metabolism, 83(8), 2621?6. doi:10.1210/jcem.83.8.5059 |