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rs386833805

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386833805(-;-)
Make rs386833805(-;ATCA)
Make rs386833805(ATCA;ATCA)
ReferenceGRCh38 38.1/141
Chromosome14
Position22773977
GeneSLC7A7
is asnp
is mentioned by
dbSNPrs386833805
ebirs386833805
HLIrs386833805
Exacrs386833805
Varsomers386833805
Maprs386833805
PheGenIrs386833805
hapmaprs386833805
1000 genomesrs386833805
hgdprs386833805
ensemblrs386833805
gopubmedrs386833805
geneviewrs386833805
scholarrs386833805
googlers386833805
pharmgkbrs386833805
gwascentralrs386833805
openSNPrs386833805
23andMers386833805
23andMe allrs386833805
SNP Nexus

SNPshotrs386833805
SNPdbers386833805
MSV3drs386833805
GWAS Ctlgrs386833805
Max Magnitude0
ClinVar
Risk rs386833805(ATCA;ATCA)
Alt rs386833805(ATCA;ATCA)
Reference rs386833805(;)
Significance Probable-Pathogenic
Disease Lysinuric protein intolerance
Variation info
Gene SLC7A7
CLNDBN Lysinuric protein intolerance
Reversed 1
HGVS NC_000014.8:g.23243187_23243190dupTGAT
CLNSRC ClinVar
CLNACC RCV000049770.1,


[PMID 10080183] SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance.


[PMID 10631139OA-icon.png] Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance.