GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ALDH4A1 P16Linsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_G01_200_37
var-GS19648-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19670-1100-36-ASM
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS18508-1100-36-ASM
ALDH4A1 T135Minsufficiently evaluated noneunknown
ALDH4A1 T195Minsufficiently evaluated none, f=0.011unknown var-GS19240-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
ALDH4A1 P267Linsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D05 from PGP sample 1205491
ALDH4A1 S352Linsufficiently evaluated pathogenic, f=0.000unknown

The ALDH4A1-S352L allele is associated with hyperprolinemia type II, a recessive disorder of proline metabolism. Some cases are benign, others have ben associated with mental retardation.

(11 web hits)

ALDH4A1 H358Rinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D01 from PGP sample 31286272
ALDH4A1 F388Linsufficiently evaluated not reviewed, f=0.011unknown var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272
ALDH4A1 V410Iinsufficiently evaluated noneunknown
ALDH4A1 P411Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS07357-1100-36-ASM
ALDH4A1 T413Ainsufficiently evaluated unknownunknown hu728FFF build 36 substitution variants
ALDH4A1 T468Ninsufficiently evaluated not reviewedunknown
ALDH4A1 V470Iinsufficiently evaluated none, f=0.111unknown

(1 web hit)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS12004-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM
ALDH4A1 T473Ainsufficiently evaluated unknown, f=0.068unknown hu3215A7 build 36 substitution variants
var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19240-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
ALDH4A1 I478Vinsufficiently evaluated not reviewedunknown
ALDH4A1 P484Linsufficiently evaluated not reviewedunknown
ALDH4A1 V489Iinsufficiently evaluated not reviewed, f=0.000unknown var-GS18501-1100-36-ASM
ALDH4A1 T528Ninsufficiently evaluated not reviewed, f=0.020unknown CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS00253-DNA_B01_200_37
ALDH4A1 I538Vinsufficiently evaluated not reviewedunknown
ALDH4A1 P544Linsufficiently evaluated not reviewed, f=0.013unknown var-GS19240-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
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Total results: 19

Gene search

"GENE" or "GENE A123C":

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