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rs386833801

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833801(-;-)
Make rs386833801(-;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position22774100
GeneSLC7A7
is asnp
is mentioned by
dbSNPrs386833801
ebirs386833801
HLIrs386833801
Exacrs386833801
Varsomers386833801
Maprs386833801
PheGenIrs386833801
hapmaprs386833801
1000 genomesrs386833801
hgdprs386833801
ensemblrs386833801
gopubmedrs386833801
geneviewrs386833801
scholarrs386833801
googlers386833801
pharmgkbrs386833801
gwascentralrs386833801
openSNPrs386833801
23andMers386833801
23andMe allrs386833801
SNP Nexus

SNPshotrs386833801
SNPdbers386833801
MSV3drs386833801
GWAS Ctlgrs386833801
Max Magnitude0
ClinVar
Risk rs386833801(;)
Alt rs386833801(;)
Reference rs386833801(C;C)
Significance Probable-Pathogenic
Disease Lysinuric protein intolerance
Variation info
Gene SLC7A7
CLNDBN Lysinuric protein intolerance
Reversed 1
HGVS NC_000014.8:g.23243309delG
CLNSRC ClinVar
CLNACC RCV000049766.1,


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