GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PPOX I12Tinsufficiently evaluated pathogenicunknown

(19 web hits)

PPOX H20Pinsufficiently evaluated pathogenicunknown

(20 web hits)

PPOX R59Winsufficiently evaluated pathogenicunknown

(150 web hits)

PPOX L78Finsufficiently evaluated noneunknown
PPOX R168Cinsufficiently evaluated pathogenicunknown

(22 web hits)

PPOX R168Hinsufficiently evaluated pathogenicunknown

(40 web hits)

PPOX G232Rinsufficiently evaluated pathogenicunknown

(26 web hits)

PPOX P256Runcertain benign, f=0.007recessive

This variant has 0.7% allele frequency in HapMap and occurs in a heme biosynthesis gene. Other variants in this gene are implicated in causing porphyria in a recessive manner, but this variant is considered a polymorphism and retains normal function in a eukaryotic expression system.

(10 web hits)

PPOX R304Hinsufficiently evaluated none, f=0.045unknown

(12 web hits)

CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS18526-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
PPOX D349Ainsufficiently evaluated pathogenicunknown

(9 web hits)

Total results: 10

Gene search

"GENE" or "GENE A123C":

Log in