| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.194C>T | p.Ser65Leu | Heterozygous | 5- Causal |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| TCG | Ser | TTG | Leu | C->T | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Coil 1b | Yes, coding strand | Yes |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0 | - | 71 (Probably pathogenous) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of Death | Geographic origin |
| V | Proband | False | Germ line |
| Phenotypic group | Disease |
| Please contact curator |
| Reference ID | PubMed ID | Reference |
| 30 | 9829912 | Olschwang S., Richard S., Boisson C., Giraud S., Puig PL., Resche F., Thomas G. Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. Hum Mutat. 1998;12(6):424-30. |