| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.2502_2513del | p.Glu835_Leu838del | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TCT | Ser | del12c | InF | In frame del | InF |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #09 |
| At the mRNA level | On restriction map |
| No mechanism suspected | 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 F0106 I01 | Proband | NA | NA | BELGIUM |
| Phenotypic group | Disease |
| NA | Weil-Marchesani |
| Symptom |
| Clinical data will be implemented as soon as possible |
| Reference ID | PubMed ID | Reference |
| 153 | 17718856 | De Backer J, Loeys B, Leroy B, Coucke P, Dietz H, De Paepe A. "Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome". Clin Genet. 2007 Sep;72(3):188-98. |