| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3276C>A | p.Tyr1092X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TAC | Tyr | TAA | Stop | C->A | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| CL4 | Yes, coding strand | No |
| Mutation(s) on the other allele: c.1040G>A (p.Arg347His) |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): Csp6 I, Rsa I |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FR001-03303-00922 | Proband | Male | Autosomal recessive |
| Phenotypic group | Disease |
| CBAVD |
| Reference ID | Reference |
| 1 | Unpublished data |