|HTRA2 A141S||uncertain benign, f=0.017||undefined|| |
Probably benign. One report proposed an association with increased risk for Parkinson’s disease, but had very weak statistical significance. A later study found an equal incidence of this variant in cases and controls, contradicting any association with the disease.
(89 web hits)
|CGI sample GS01173-DNA_B02 from PGP sample 94378523|
|CGI sample GS01175-DNA_D03 from PGP sample 27486199|
|HTRA2 Y163C||insufficiently evaluated not reviewed, f=0.008||unknown||var-GS19670-1100-36-ASM|
|HTRA2 E165Shift||insufficiently evaluated not reviewed||unknown||PGP13 (hu3A8D13) build 37, from CGI var (software ver 18.104.22.168)|
|HTRA2 G399S||uncertain benign, f=0.004||undefined|| |
Although one group reported this variant as being associated with Parkinson’s disease, their screen lacked statistical significance and later studies have found equal frequencies of this variant in unaffected controls. Knockout of this gene is reported to cause parkinsonianism in mice, but another functional study found no impact on the mitochondrial pathway they implicate as being causal in Parkinson’s.
(93 web hits)
|CGI sample GS00253-DNA_C01_200_37|
|Total results: 4|