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rs386833796

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GAG;GAG) 0 common in clinvar
Make rs386833796(-;-)
Make rs386833796(-;GGA)
Make rs386833796(GGA;GGA)
ReferenceGRCh38 38.1/141
Chromosome14
Position22813292
GeneSLC7A7
is asnp
is mentioned by
dbSNPrs386833796
ebirs386833796
HLIrs386833796
Exacrs386833796
Varsomers386833796
Maprs386833796
PheGenIrs386833796
hapmaprs386833796
1000 genomesrs386833796
hgdprs386833796
ensemblrs386833796
gopubmedrs386833796
geneviewrs386833796
scholarrs386833796
googlers386833796
pharmgkbrs386833796
gwascentralrs386833796
openSNPrs386833796
23andMers386833796
23andMe allrs386833796
SNP Nexus

SNPshotrs386833796
SNPdbers386833796
MSV3drs386833796
GWAS Ctlgrs386833796
Max Magnitude0
ClinVar
Risk rs386833796(;)
Alt rs386833796(;)
Reference rs386833796(GAG;GAG)
Significance Probable-Pathogenic
Disease Lysinuric protein intolerance
Variation info
Gene SLC7A7
CLNDBN Lysinuric protein intolerance
Reversed 1
HGVS NC_000014.8:g.23282501_23282503delTCC
CLNSRC ClinVar
CLNACC RCV000049761.1,


[PMID 15756301] A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance.