| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.695T>A | p.Val232Asp | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GTC | Val | GAC | Asp | T->A | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TM4 | Yes, coding strand | No |
| Mutation(s) on the other allele: c.3484C>T (p.Arg1162X) |
| 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) |
| 0,91 | 0.00 (pathogenous) | 94 (Pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FR001-04333-01300 | Proband | Female | Autosomal recessive |
| Phenotypic group | Disease |
| CF |
| Reference ID | Reference |
| 0 | Unpublished data |