| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.227_229delTCT | p.Phe76_Phe76del | Heterozygous | 5- Causal |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TTC | Phe | del3b | InF | In frame del | InF |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Linker 2 | Yes, coding strand |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): BspW I, Fnu4H I |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| 01-GR21-A12I- | Proband | Female |
| Phenotypic group | Disease |
| Please contact curator |
| Reference ID | PubMed ID | Reference |
| 19 | 8634692 | Clinical Research Group for VHL in Japan, Germline mutations in the von Hippel-Lindau disease (VHL) gene in Japanese VHL Human Molecular Genetics, 1995, 4 : 2233-2237 |