Details
| Name | p.Lys155Gln |
| Type | somatic mutation |
| Species | Homo sapiens |
| Tissue | blood samples |
| Experiment Method | qPCR |
| Up/Down | NA |
| Pro/Anti | NA |
| Funtion Description | An analysis of coding variation in 2,268 age-related macular degeneration cases and 2,268 ancestry-matched controls identified 2 large-effect rare variants: previously described p.Arg1210Cys encoded in the CFH gene (case frequency (fcase) = 0.51%; control |
| Regulation Gene | C3 |
| Year | 2013 |
| Pubmed ID | 24036949 |
| Title | Identification of a rare coding variant in complement 3 associated with age-related macular degeneration |
| Drug | NA |
| Disease | age-related macular degeneration |
| Environment Factors | NA |
| Circulating | 1 |
| Variant | somatic mutation |
| High-throughput | NA |