GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SLC5A2 W64Rinsufficiently evaluated none, f=0.008unknown var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
SLC5A2 W440Xinsufficiently evaluated pathogenicunknown
SLC5A2 E591Dinsufficiently evaluated not reviewed, f=0.001unknown CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS00253-DNA_B01_200_37
SLC5A2 P602Linsufficiently evaluated not reviewed, f=0.005unknown var-GS19020-1100-36-ASM
var-GS19017-1100-36-ASM
SLC5A2 T629Ainsufficiently evaluated none, f=0.020unknown hu3215A7 build 36 substitution variants
var-GS18504-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS18508-1100-36-ASM
SLC5A2 N654Suncertain pathogenic, f=0.007recessive

Some authors report this rare variant as a nonpathogenic polymorphism, others suggest it may cause renal glucosuria in a recessive manner when compound heterozygous with other pathogenic variants.

(11 web hits)

CGI sample GS000005532
CGI sample GS01175-DNA_A04 from PGP sample 13272228
Total results: 6

Gene search

"GENE" or "GENE A123C":

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