| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.8287dup | p.Ile2763AsnfsX11 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| ATC | Ile | ins1b | Fs. | Stop at 2773 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| FibuCTDIII-like motif |
| At the mRNA level | On restriction map |
| One base duplication | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| AUS02WES F0037 I01 | Proband | NA | NA | AUSTRALIA |
| Phenotypic group | Disease |
| NA | NA |
| Symptom |
| Reference ID | PubMed ID | Reference |
| 134 | - | Ad*s L. (Personal communication 2004-2006). |