| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.7939delC | p.Gln2647LysfsX35 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CAA | Gln | del1a | Fs. | Stop at 2681 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #42 | Ca2+ binding |
| 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 |
| NET05GRO F0064 I0001 | Proband | NA | NA | NETHERLAND |
| Phenotypic group | Disease |
| NA | MFS |
| Symptom |
| Reference ID | PubMed ID | Reference |
| 272 | 24161884 | Aalberts JJ, Tintelen JP, Meijboom LJ, Polko A, Jongbloed JD, van der Wal H, Pals G, Osinga J, Timmermans J, de Backer J, Bakker MK, van Veldhuisen DJ, Hofstra RM, Mulder BJ, van den Berg MP. "Relation between genotype and left-ventricular dilatation in patients with Marfan syndrome". Gene. 2014 Jan 15;534(1):40-3. |