| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS8-1G>C (c.989-1G>C) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAT | Asp | spl-1 | Spl. | G->C | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#01 | conserved AA in TGFBP |
| At the mRNA level | On restriction map |
| Not tested on cDNA | New restriction site(s): none Lost restriction site(s): none |
| Impact on splicing | ||||||||||
| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
| ctttgtcctcagAT |
| ctttgtcctcacAT |
| -31.8 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| BEL01GHE F0082 I01 | Proband | NA | NA | BELGIUM |
| Phenotypic group | Disease |
| NA | NA |
| Symptom | Age |
| C-Dilation or dissection of asc. aorta | 30 |
| 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. |