| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1585-1G>A (1717-1G>A) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAC | Asp | spl-1 | Spl. | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| 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 |
| Impact on splicing | ||||||||||
| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
| ttttggtaatagGA |
| ttttggtaataaGA |
| -35.5 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FR001-00756-00137 | Proband | Male | Autosomal recessive |
| Phenotypic group | Disease |
| CF |
| Reference ID | Reference |
| 1 | Unpublished data |