GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ALDH3A2 Q10Einsufficiently evaluated not reviewed, f=0.004unknown hu232307 build 36 substitution variants
ALDH3A2 A188Vinsufficiently evaluated not reviewed, f=0.012unknown var-GS19239-1100-36-ASM
var-GS19026-1100-36-ASM
ALDH3A2 C214Yinsufficiently evaluated pathogenicunknown
ALDH3A2 K266Ninsufficiently evaluated pathogenicunknown

(1 web hit)

ALDH3A2 P315Sinsufficiently evaluated pathogenicrecessive

This variant associated with Sjogren-Larsson Syndrome

(7 web hits)

ALDH3A2 G334Rinsufficiently evaluated not reviewedunknown
ALDH3A2 N386Sinsufficiently evaluated pathogenicunknown

(2 web hits)

ALDH3A2 P424Sinsufficiently evaluated not reviewed, f=0.004unknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
var-GS19670-1100-36-ASM
Total results: 8

Gene search

"GENE" or "GENE A123C":

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