GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ALDH7A1 R82Xinsufficiently evaluated pathogenicunknown

(2 web hits)

ALDH7A1 I97Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS18537-1100-36-ASM
ALDH7A1 A171Vinsufficiently evaluated pathogenicunknown

(1 web hit)

ALDH7A1 N273Iinsufficiently evaluated pathogenicunknown

(1 web hit)

ALDH7A1 R334Ginsufficiently evaluated not reviewedunknown
ALDH7A1 Y380Xinsufficiently evaluated pathogenicunknown

(1 web hit)

ALDH7A1 T384Ainsufficiently evaluated not reviewed, f=0.023unknown var-GS18942-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS18947-1100-36-ASM
ALDH7A1 T398Ainsufficiently evaluated not reviewed, f=0.008unknown var-GS19026-1100-36-ASM
ALDH7A1 E399Qinsufficiently evaluated pathogenicunknown

(3 web hits)

ALDH7A1 K411Qinsufficiently evaluated not reviewed, f=0.094unknown hu3215A7 build 36 substitution variants
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
var-GS07357-1100-36-ASM
hu232307 build 36 substitution variants
var-GS19834-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS06985-1100-36-ASM
ALDH7A1 T412Ainsufficiently evaluated none, f=0.000unknown
ALDH7A1 K439Qinsufficiently evaluated not reviewed, f=0.075unknown

(1 web hit)

CGI sample GS01175-DNA_H01 from PGP sample 94797469
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS000005532
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS00253-DNA_B01_200_37
CGI sample GS00253-DNA_A02_200_37
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
hu728FFF build 36 substitution variants
CGI sample GS01175-DNA_D03 from PGP sample 27486199
ALDH7A1 T523Ainsufficiently evaluated none, f=0.005unknown
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Total results: 13

Gene search

"GENE" or "GENE A123C":

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