| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.350G>A | p.Arg117His | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CGC | Arg | CAC | His | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| EC | No | Yes |
| Mutation(s) on the other allele: c.1521_1523delCTT (p.Phe508del) |
| 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) |
| 0,88 | 0.14 (non pathogenous) | 47 (Polymorphism) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FR001-03392-00950 | Proband | Male | Autosomal recessive |
| Phenotypic group | Disease |
| CBAVD |
| Reference ID | Reference |
| 1 | Unpublished data |