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rs386833798

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386833798(-;-)
Make rs386833798(-;AACTA)
Make rs386833798(AACTA;AACTA)
ReferenceGRCh38 38.1/141
Chromosome14
Position22774447
GeneSLC7A7
is asnp
is mentioned by
dbSNPrs386833798
ebirs386833798
HLIrs386833798
Exacrs386833798
Varsomers386833798
Maprs386833798
PheGenIrs386833798
hapmaprs386833798
1000 genomesrs386833798
hgdprs386833798
ensemblrs386833798
gopubmedrs386833798
geneviewrs386833798
scholarrs386833798
googlers386833798
pharmgkbrs386833798
gwascentralrs386833798
openSNPrs386833798
23andMers386833798
23andMe allrs386833798
SNP Nexus

SNPshotrs386833798
SNPdbers386833798
MSV3drs386833798
GWAS Ctlgrs386833798
Max Magnitude0
ClinVar
Risk rs386833798(AACTA;AACTA)
Alt rs386833798(AACTA;AACTA)
Reference rs386833798(;)
Significance Probable-Pathogenic
Disease Lysinuric protein intolerance
Variation info
Gene SLC7A7
CLNDBN Lysinuric protein intolerance
Reversed 1
HGVS NC_000014.8:g.23243657_23243661dupTAGTT
CLNSRC ClinVar
CLNACC RCV000049763.1,


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