| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS1-39C>G (c.1-39C>G) | p.Met1? | Heterozygous | Benign |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ATG | Met | spl-39 | Spl. | C->G | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Ju, NM, RP |
| 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 (%) | |||||
| ccctccctcccccgg |
| ccctccctcccGcgg |
| 46.3 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 02-BO18-C01R- | Proband | Female | 33 |
| Phenotypic group | Disease |
| Please contact curator |
| Reference ID | PubMed ID | Reference |
| 0 | Í |