| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1040G>A | p.Arg347His | 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 |
| TM6 | No | Yes |
| Mutation(s) on the other allele: c.3276C>A (p.Tyr1092X) |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): Fsp I, Hha I, HinP I |
| Pathogenicity (bioinformatics predictions) | ||
| Conservation (0-1) | SIFT (0-1) | UMD predictor (0-100) |
| 0,92 | 0.04 (pathogenous) | 56 (Probable polymorphism) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FR001-03303-00922 | Proband | Male |
| Phenotypic group | Disease |
| CBAVD |
| Reference ID | Reference |
| 1 | Unpublished data |