| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3196C>T | p.Arg1066Cys | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CGT | Arg | TGT | Cys | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| CL4 | Yes, coding strand | Yes |
| Mutation(s) on the other allele: c.1624G>T (p.Gly542X) |
| 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) |
| 0,89 | 0.00 (pathogenous) | 94 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FR001-04039-01191 | Relative | Male | Autosomal recessive |
| Phenotypic group | Disease |
| CF |
| Reference ID | Reference |
| 0 | Unpublished data |