| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.2779_2780delGT | p.Val927X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GTT | Val | del2a | Fs. | Stop at 927 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #10 | Ca2+ binding |
| At the mRNA level | On restriction map |
| Deletion of a repeated sequence | New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| GER01BER F0060 I0001 | Proband | NA | NA | GERMANY |
| Phenotypic group | Disease |
| NA | NA |
| Symptom |
| Clinical data will be implemented as soon as possible |
| Reference ID | PubMed ID | Reference |
| 129 | - | Robinson P. (Personnal comunication 2004-2006). |