| Name |
Y402H
|
| Type |
somatic mutation
|
| Species |
Homo sapiens
|
| Tissue |
blood samples
|
| Experiment Method |
qPCR
|
| Up/Down |
NA
|
| Pro/Anti |
Pro
|
| Funtion Description |
The Y402H variant in the CFH gene was found to be associated with late age-related macular degeneration in our study population. Genotypic frequencies were highly different between all patients and control individuals compared for the heterozygotes carryi
|
| Regulation Gene |
CFH
|
| Year |
2012
|
| Pubmed ID |
22486323
|
| Title |
Association of CFH Y402H polymorphism with both forms of advanced age-related macular degeneration in Turkish patients
|
| Drug |
NA
|
| Disease |
age-related macular degeneration
|
| Environment Factors |
NA
|
| Circulating |
1
|
| Variant |
SNP
|
| High-throughput |
NA
|