| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.489+2T>G (621+2T>G) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAG | Lys | spl+2 | Spl. | T->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Mutation(s) on the other allele: c.2374C>T (p.Arg792X) |
| 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 (%) | |||||
| AAGgtaata |
| AAGggaata |
| -31.8 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FR001-00711-00129 | Proband | Female | Autosomal recessive |
| Phenotypic group | Disease |
| CF |
| Reference ID | Reference |
| 0 | Unpublished data |