A Manually Curated Knowledgebase of Aging across a variety of Species

Details


Name R95X
Type somatic mutation
Species Homo sapiens
Tissue blood samples
Experiment Method qPCR
Up/Down NA
Pro/Anti Anti
Funtion Description The frequency of those with one or two C9-R95X variants was lower in neovascular age-related macular degeneration (2.02%) than in PCV (5.71%) and controls (6.05%). The presence of C9-R95X conferred a 4.7-fold reduction (95% confidence interval, 1.2-18.1;
Regulation Gene C9-R95X
Year 2012
Pubmed ID 22190594
Title C9-R95X polymorphism in patients with neovascular age-related macular degeneration
Drug NA
Disease age-related macular degeneration;polypoidal choroidal vasculopathy
Environment Factors NA
Circulating 1
Variant somatic mutation
High-throughput NA