| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.7022_7023delCA | p.Thr2341ArgfsX25 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ACA | Thr | del2b | Fs. | Stop at 2365 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP #07 |
| At the mRNA level | On restriction map |
| Deletion of a repeated sequence | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| BEL01GHE F0259 I0001 | Proband | Male | familial | POLAND |
| Phenotypic group | Disease |
| NA | MFS |
| Symptom | Severity | Age |
| C-Asc. aortic dilatation | surgery | 27 |
| C-Mitral valve prolapse | 27 | |
| CF-Dolichocephaly | 27 | |
| CF-Down-slanting palpebral fissures | 27 | |
| O-Myopia | 27 | |
| S-Arachnodactyly (M) | 27 | |
| S-Arm span/height >1.05 (M) | 27 | |
| S-Crowding teeth (m) | 27 | |
| S-High arched palate | 27 | |
| S-Pectus excavatum moderate (m)(1) | Surgery | 11 |
| S-Reduced US/LS ratio <0.87 (M) | 27 | |
| SI-Significant striae atrophicae (m)(1) | 27 |
| Reference ID | PubMed ID | Reference |
| 273 | 24296667 | Wypasek E, Potaczek DP, St?por R, Coucke PJ, De Backer J, De Paepe AM, Undas A. "First report of the genetic background of Marfan syndrome in Polish patients". Pol Arch Med Wewn. 2013;123(11):646-7. |