| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.2049C>A | p.Cys683X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGC | Cys | TGA | Stop | C->A | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#02 | C in disulfide bonds 661-683 | Yes, coding strand | No |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| GRE01ATH F0001 I0001 | Proband | Female | familial | GREECE |
| Phenotypic group | Disease |
| NA | NA |
| Symptom | Age |
| asymptomatic | 32 |
| Reference ID | PubMed ID | Reference |
| 267 | 23781359 | Vlahos NF, Triantafyllidou O, Vitoratos N, Grigoriadis C, Creatsas G. "Preimplantation genetic diagnosis in marfan syndrome". Case Rep Obstet Gynecol. 2013;2013:542961. |