| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1009A>T | p.Lys337X | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| AAG | Lys | TAG | Stop | A->T | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| Yes, non coding strand | No |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| CS1AN | Proband | U.S.A. |
| Phenotypic group | Disease |
| Symptom |
| Reference ID | PubMed ID | Reference |
| 6 | 1339317 | Troelstra C, van Gool A, de Wit J, Vermeulen W, Bootsma D, Hoeijmakers JH. ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes. Cell 1992;71(6):939-53. |