| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.4179_4187del | p.Gly1394_Thr1396del | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAA | Glu | del9c | InF | In frame del | InF |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #19 |
| 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 |
| AUS01NAD F0018 I79 | Proband | Male | de novo | first year of life (3 years old) | AUSTRALIA |
| Phenotypic group | Disease |
| NA | Neonatal MFS |
| Symptom |
| C-Mitral regurgitation |
| C-Mitral regurgitation |
| C-Mitral valve prolapse |
| O-Ectopia lentis |
| O-Iridodonesis |
| Reference ID | PubMed ID | Reference |
| 114 | 14695540 | Biggin A, Holman K, Brett M, Bennetts B, Ades L. "Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy". Hum Mutat. 2004 Jan;23(1):99. |