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rs386833794

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CTTT;CTTT) 0 common in clinvar
Make rs386833794(-;-)
Make rs386833794(-;CTTT)
ReferenceGRCh38 38.1/141
Chromosome14
Position22775531
GeneSLC7A7
is asnp
is mentioned by
dbSNPrs386833794
ebirs386833794
HLIrs386833794
Exacrs386833794
Varsomers386833794
Maprs386833794
PheGenIrs386833794
hapmaprs386833794
1000 genomesrs386833794
hgdprs386833794
ensemblrs386833794
gopubmedrs386833794
geneviewrs386833794
scholarrs386833794
googlers386833794
pharmgkbrs386833794
gwascentralrs386833794
openSNPrs386833794
23andMers386833794
23andMe allrs386833794
SNP Nexus

SNPshotrs386833794
SNPdbers386833794
MSV3drs386833794
GWAS Ctlgrs386833794
Max Magnitude0
ClinVar
Risk rs386833794(;)
Alt rs386833794(;)
Reference rs386833794(CTTT;CTTT)
Significance Probable-Pathogenic
Disease Lysinuric protein intolerance
Variation info
Gene SLC7A7
CLNDBN Lysinuric protein intolerance
Reversed 1
HGVS NC_000014.8:g.23244740_23244743delAAAG
CLNSRC ClinVar
CLNACC RCV000049759.1,


[PMID 10080182] Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene.


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


[PMID 12402335] Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance.