| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3388delC | p.His1130IlefsX32 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CAT | His | del1a | Fs. | Stop at 1161 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #13 | 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 |
| BEL01GHE F0095 I01 | Proband | NA | NA | BELGIUM |
| Phenotypic group | Disease |
| NA | NA |
| Symptom | Age |
| C-Minor cardiovascular involvement | 27 |
| Reference ID | PubMed ID | Reference |
| 121 | 15241795 | Loeys B, De Backer J, Van Acker P, Wettinck K, Pals G, Nuytinck L, Coucke P, De Paepe A. "Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome". Hum Mutat. 2004 Aug;24(2):140-6. |