| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS29+1G>C (c.3712+1G>C) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAC | Asp | spl+1 | Spl. | G->C | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #16 | Ca2+ binding | Yes, non coding strand |
| 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 (%) | |||||
| CCGgtgagt |
| CCGctgagt |
| -28.5 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| AUS02WES F0021 I01 | Proband | NA | NA | <1 years old | AUSTRALIA |
| Phenotypic group | Disease |
| NA | Neonatal MFS |
| Symptom |
| C-Asc. aortic dilatation |
| C-Mitral valve prolapse |
| Reference ID | PubMed ID | Reference |
| 114 | 14695540 | Biggin A, Holman K, Brett M, Bennetts B, Ades L. "Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy". Hum Mutat. 2004 Jan;23(1):99. |