| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1210-12T[5] (1342-12T[5]) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GGA | Gly | spl-12 | Spl. | T[5] |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Other mutation(s) not assigned to a specific allele: c.3846G>A (p.Trp1282X) |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Impact on splicing | ||||||||||
| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
| TTTTTTTAACAGGA |
| TGTTTTTAACAGGA |
| -3.9 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FR001-05177-01625 | Proband | Male | Autosomal recessive |
| Phenotypic group | Disease |
| CBAVD |
| Reference ID | Reference |
| 0 | Unpublished data |