| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS37+5G>T (c.4747+5G>T) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TCC | Ser | spl+5 | Spl. | G->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#04 |
| At the mRNA level | On restriction map |
| Deletion of 48bp (exon 37) | 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 (%) | |||||
| CATgtaagt |
| CATgtaatt |
| -13.8 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| CAN01TOR F0001 I19 | Proband | Male | familial | at 12 1/2 years old | CANADA |
| Phenotypic group | Disease |
| NA | Classical MFS |
| Symptom | Severity |
| S-Arachnodactyly (M) | |
| S-Arm span/height >1.05 (M) | |
| S-Increased body length | |
| S-Pectus carinatum (M)(2) | |
| S-Scoliosis > 20° (M)(1) | thoracic |
| Reference ID | PubMed ID | Reference |
| 59 | 10189089 | McGrory J, Cole WG. "Alternative splicing of exon 37 of FBN1 deletes part of an 'eight-cysteine' domain resulting in the Marfan syndrome". Clin Genet 1999 Feb;55(2):118-21 . |