| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.623delG | p.Gly208AlafsX16 | Heterozygous | CAUSAL |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GGC | Gly | del1b | Fs. | Stop at 223 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Ju,Sm,NMH,HD,NM |
| Other variation(s) reported for this sample: c.618C>A |
| 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-BA21-C08R- | Proband | Female | 35 |
| Phenotypic group | Disease |
| Please contact curator |
| Reference ID | PubMed ID | Reference |
| 10 | 10634374 | Goebel, S. U., Heppner, C., Burns, A. L., Marx, S. J., Spiegel, A. M., Zhuang, Z., ? Serrano, J. (2000). Genotype/phenotype correlation of multiple endocrine neoplasia type 1 gene mutations in sporadic gastrinomas. The Journal of Clinical Endocrinology and Metabolism, 85(1), 116?23. doi:10.1210/jcem.85.1.6260 |