GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
OFD1 K422Einsufficiently evaluated none, f=0.008unknown var-GS18504-1100-36-ASM (hom)
var-GS18517-1100-36-ASM
OFD1 Q545Runcertain benign, f=0.000unknown

Rare, tentatively evaluated as benign. Polyphen 2 predicts damaging effect, but this is variant found in a healthy male PGP participant.

CGI sample GS00253-DNA_H01_200_37 (hom)
OFD1 S781Rinsufficiently evaluated not reviewedunknown
OFD1 G842Rinsufficiently evaluated not reviewed, f=0.001unknown var-GS18947-1100-36-ASM
Total results: 4

Gene search

"GENE" or "GENE A123C":

Log in