| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1380_1391del | p.Glu461_Ala464del | Heterozygous | UV |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| CGA | Arg | del12c | InF | In frame del | InF |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Pem,NM,CH | Yes, non coding strand |
| At the mRNA level | On restriction map |
| New restriction site(s): BspW I, Xcm I Lost restriction site(s): Fnu4H I |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 01-SE11-M01R- | Proband | Female | 53 |
| Phenotypic group | Disease |
| Please contact curator |
| Reference ID | PubMed ID | Reference |
| 0 | Í |