| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.5074_5097del | p.Arg1692_Tyr1699del | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AGA | Arg | del24a | InF | In frame del | InF |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#05 |
| 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 |
| FRA02PAR F0001 I0001 | Proband | Male | familial | Unknown | FRANCE |
| Phenotypic group | Disease |
| NA | Weil-Marchesani |
| Symptom |
| O-Cataract |
| O-Ectopia lentis |
| O-Glaucoma |
| O-Iridodonesis |
| O-Microspherophakia |
| O-Myopia |
| O-Shallow anterior chambers |
| S-Joint limitations |
| S-Short stature |
| Reference ID | PubMed ID | Reference |
| 106 | 12525539 | Faivre L, Gorlin RJ, Wirtz MK, Godfrey M, Dagoneau N, Samples JR, Le Merrer M, Collod-Beroud G, Boileau C, Munnich A, Cormier-Daire V. "In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome". J Med Genet. 2003 Jan;40(1):34-6. |