| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.8238_8239delGA | p.Glu2746AspfsX13 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAG | Glu | del2c | Fs. | Stop at 2758 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| FibuCTDIII-like motif |
| 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 |
| USA01BAL F0028 I01 | Proband | Female | de novo | ? | U.S.A |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| C-Asc. aortic dilatation | borderline |
| C-Mitral valve prolapse | |
| O-Myopia | |
| S-Chest deformity (unspecified) | |
| S-Increased body length | |
| S-Joint hypermobility (m) | |
| SI-Significant striae atrophicae (m)(1) | |
| SI-Translucent skin |
| Reference ID | PubMed ID | Reference |
| 21 | 7611299 | Nijbroek G, Sood S, McIntosh I, Francomano CA, Bull E, Pereira L, Ramirez F, Pyeritz RE, Dietz HC. "Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons". Am J Hum Genet 1995 Jul;57(1):8-21 . |