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rs386833816

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833816(C;C)
Make rs386833816(C;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position22812945
GeneSLC7A7
is asnp
is mentioned by
dbSNPrs386833816
ebirs386833816
HLIrs386833816
Exacrs386833816
Varsomers386833816
Maprs386833816
PheGenIrs386833816
hapmaprs386833816
1000 genomesrs386833816
hgdprs386833816
ensemblrs386833816
gopubmedrs386833816
geneviewrs386833816
scholarrs386833816
googlers386833816
pharmgkbrs386833816
gwascentralrs386833816
openSNPrs386833816
23andMers386833816
23andMe allrs386833816
SNP Nexus

SNPshotrs386833816
SNPdbers386833816
MSV3drs386833816
GWAS Ctlgrs386833816
Max Magnitude0
ClinVar
Risk rs386833816(C;C)
Alt rs386833816(C;C)
Reference rs386833816(T;T)
Significance Probable-Pathogenic
Disease Lysinuric protein intolerance
Variation info
Gene SLC7A7
CLNDBN Lysinuric protein intolerance
Reversed 1
HGVS NC_000014.8:g.23282154A>G
CLNSRC ClinVar
CLNACC RCV000049781.1,


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