GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
AIPL1 T47Rinsufficiently evaluated not reviewed, f=0.003unknown var-GS18501-1100-36-ASM
AIPL1 T54Iinsufficiently evaluated noneunknown
AIPL1 D90Hinsufficiently evaluated not reviewed, f=0.165unknown

(12 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS21767-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19239-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS19648-1100-36-ASM
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 (hom)
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19129-1100-36-ASM
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
AIPL1 T114Ipathogenic, f=0.020recessive

This variant is reported causative for Leber Congenital Amaurosis IV.

(7 web hits)

var-GS18517-1100-36-ASM
AIPL1 C239Rinsufficiently evaluated pathogenicunknown

(12 web hits)

AIPL1 G262Sinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
AIPL1 W278Xinsufficiently evaluated pathogenic, f=0.001unknown

(56 web hits)

AIPL1 A313Sinsufficiently evaluated not reviewed, f=0.005unknown var-GS18501-1100-36-ASM
AIPL1 P313Sinsufficiently evaluated noneunknown
AIPL1 P316Sinsufficiently evaluated noneunknown
AIPL1 P376Sinsufficiently evaluated pathogenic, f=0.022recessive

This variant is reported causative for Leber Congenital Amaurosis IV, but frequency in 1000 genomes data (19.6%) contradicts pathogenic effect.

(11 web hits)

var-GS19129-1100-36-ASM
var-GS18517-1100-36-ASM
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Total results: 11

Gene search

"GENE" or "GENE A123C":

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