GET-Evidence: Search

VariantImpactInheritance patternSummaryGenomes
HTRA2 A141Suncertain benign, f=0.017undefined

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 Y163Cinsufficiently evaluated not reviewed, f=0.008unknown var-GS19670-1100-36-ASM
HTRA2 E165Shiftinsufficiently evaluated not reviewedunknown PGP13 (hu3A8D13) build 37, from CGI var (software ver
HTRA2 G399Suncertain benign, f=0.004undefined

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

Gene search

"GENE" or "GENE A123C":

Log in