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rs386833813

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs386833813(-;-)
Make rs386833813(-;TT)
ReferenceGRCh38 38.1/141
Chromosome14
Position22813144
GeneSLC7A7
is asnp
is mentioned by
dbSNPrs386833813
ebirs386833813
HLIrs386833813
Exacrs386833813
Varsomers386833813
Maprs386833813
PheGenIrs386833813
hapmaprs386833813
1000 genomesrs386833813
hgdprs386833813
ensemblrs386833813
gopubmedrs386833813
geneviewrs386833813
scholarrs386833813
googlers386833813
pharmgkbrs386833813
gwascentralrs386833813
openSNPrs386833813
23andMers386833813
23andMe allrs386833813
SNP Nexus

SNPshotrs386833813
SNPdbers386833813
MSV3drs386833813
GWAS Ctlgrs386833813
Max Magnitude0
ClinVar
Risk rs386833813(;)
Alt rs386833813(;)
Reference rs386833813(TT;TT)
Significance Probable-Pathogenic
Disease Lysinuric protein intolerance
Variation info
Gene SLC7A7
CLNDBN Lysinuric protein intolerance
Reversed 1
HGVS NC_000014.8:g.23282353_23282354delAA
CLNSRC ClinVar
CLNACC RCV000049778.1,


[PMID 10655553] Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI).