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rs386833822

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833822(A;A)
Make rs386833822(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position22779925
GeneSLC7A7
is asnp
is mentioned by
dbSNPrs386833822
ebirs386833822
HLIrs386833822
Exacrs386833822
Varsomers386833822
Maprs386833822
PheGenIrs386833822
hapmaprs386833822
1000 genomesrs386833822
hgdprs386833822
ensemblrs386833822
gopubmedrs386833822
geneviewrs386833822
scholarrs386833822
googlers386833822
pharmgkbrs386833822
gwascentralrs386833822
openSNPrs386833822
23andMers386833822
23andMe allrs386833822
SNP Nexus

SNPshotrs386833822
SNPdbers386833822
MSV3drs386833822
GWAS Ctlgrs386833822
Max Magnitude0
ClinVar
Risk rs386833822(A,C;A,C)
Alt rs386833822(A,C;A,C)
Reference rs386833822(G;G)
Significance Probable-Pathogenic
Disease Lysinuric protein intolerance
Variation info
Gene SLC7A7
CLNDBN Lysinuric protein intolerance
Reversed 1
HGVS NC_000014.8:g.23249134C>G; NC_000014.8:g.23249134C>T
CLNSRC ClinVar
CLNACC RCV000049788.1, RCV000049787.1,


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


[PMID 10737982] SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families.


[PMID 18716612OA-icon.png] Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.