| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3846G>A | p.Trp1282X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TGG | Trp | TGA | Stop | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| NBD2 | Yes, non coding strand | No |
| Mutation(s) on the other allele: c.3454G>C (p.Asp1152His) |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FR001-05316-01680 | Proband | Male | Autosomal recessive |
| Phenotypic group | Disease |
| CBAVD |
| Reference ID | Reference |
| 0 | Unpublished data |