| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.2991G>C | p.Leu997Phe | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TTG | Leu | TTC | Phe | G->C | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TM9 | No | No |
| Mutation(s) on the other allele: c.1624G>T (p.Gly542X) |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Pathogenicity (bioinformatics predictions) | ||
| Conservation (0-1) | SIFT (0-1) | UMD predictor (0-100) |
| 0,91 | 0.70 (non pathogenous) | 41 (Polymorphism) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FR001-03499-00996 | Proband | Male | Autosomal recessive |
| Phenotypic group | Disease |
| CBAVD |
| Reference ID | Reference |
| 1 | Unpublished data |