| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3863delC | p.Pro1288GlnfsX5 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CCA | Pro | del1b | Fs. | Stop at 1292 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #17 | conserved AA in cbEGF-like |
| At the mRNA level | On restriction map |
| Deletion in a stretch of nucleotides | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| NET04NIJ F0003 I0001 | Proband | Female | familial | 5 years old | NETHERLAND |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom |
| Reference ID | PubMed ID | Reference |
| 184 | 19059503 | Van Dijk FS, Hamel BC, Hilhorst-Hofstee Y, Mulder BJ, Timmermans J, Pals G, Cobben JM. "Compound-heterozygous Marfan syndrome". Eur J Med Genet. 2009 Jan-Feb;52(1):1-5. |