GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SLC6A19 D173Npathogenic, f=0.002recessive

Causes Hartnup disorder in a recessive manner. This disorder involves difficulty in absorption of certain amino acids, causing symptoms of photosensitivity, tremor, and involuntary eye movements. These usually manifest after a period of poor nutrition, and the disorder can be treated with a high-protein diet.

(58 web hits)

SLC6A19 E217Ginsufficiently evaluated not reviewedunknown
SLC6A19 V252Iinsufficiently evaluated none, f=0.196unknown

(1 web hit)

CGI sample GS00253-DNA_E01_200_37
var-GS19025-1100-36-ASM (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19240-1100-36-ASM (hom)
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191
var-GS19026-1100-36-ASM
var-GS18956-1100-36-ASM
Total results: 3

Gene search

"GENE" or "GENE A123C":

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