| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS52-1G>A (c.6497-1G>A) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAT | Asp | spl-1 | Spl. | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| cb EGF-like #33 | Ca2+ binding |
| At the mRNA level | On restriction map |
| Not tested on cDNA | 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 (%) | |||||
| ggtttcttgcagAT |
| ggtttcttgcaaAT |
| -32.8 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| FRA01BOU F0475 I0512 | Proband | Male | NA | FRANCE |
| Phenotypic group | Disease |
| NA | Unknown |
| Symptom |
| Reference ID | PubMed ID | Reference |
| 207 | - | Boileau C. (personnal communication 2013) |