| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS40+3del5 (c.5065+3del5) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAT | Asp | spl+3 | Spl. | del5 | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| TGFBP#05 | conserved AA in TGFBP |
| 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 (%) | |||||
| TGGgtaagt |
| TGGgtagtc |
| -14.4 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| AUS02WES F0048 I01 | Proband | NA | NA | AUSTRALIA |
| Phenotypic group | Disease |
| NA | Unknown |
| Symptom |
| Reference ID | PubMed ID | Reference |
| 134 | - | Ad*s L. (Personal communication 2004-2006). |