Details
| Name | Y402H |
| Type | somatic mutation |
| Species | Homo sapiens |
| Tissue | blood samples |
| Experiment Method | qPCR |
| Up/Down | NA |
| Pro/Anti | Pro |
| Funtion Description | Assuming that rare functional variants might provide mechanistic insights, we used genotype data and high-throughput sequencing to discover a rare, high-risk CFH haplotype with a c.3628C>T mutation that resulted in an R1210C substitution. This allele has |
| Regulation Gene | CFH |
| Year | 2011 |
| Pubmed ID | 22019782 |
| Title | A rare penetrant mutation in CFH confers high risk of age-related macular degeneration |
| Drug | NA |
| Disease | age-related macular degeneration |
| Environment Factors | NA |
| Circulating | 1 |
| Variant | somatic mutation |
| High-throughput | NA |