| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.3752G>A | p.Ser1251Asn | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AGT | Ser | AAT | Asn | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| NBD2 | Yes, non coding strand | No |
| Mutation(s) on the other allele: c.2551C>T (p.Arg851X) |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): Csp6 I, Rsa I, Sca I |
| Pathogenicity (bioinformatics predictions) | ||
| Conservation (0-1) | SIFT (0-1) | UMD predictor (0-100) |
| 0,92 | 0.00 (pathogenous) | 53 (Probable polymorphism) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FR001-04401-01322 | Proband | Female | Autosomal recessive |
| Phenotypic group | Disease |
| CF |
| Reference ID | Reference |
| 1 | Unpublished data |