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rs386833800

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TTCT;TTCT) 0 common in clinvar
Make rs386833800(-;-)
Make rs386833800(-;TTCT)
ReferenceGRCh38 38.1/141
Chromosome14
Position22774411
GeneSLC7A7
is asnp
is mentioned by
dbSNPrs386833800
ebirs386833800
HLIrs386833800
Exacrs386833800
Varsomers386833800
Maprs386833800
PheGenIrs386833800
hapmaprs386833800
1000 genomesrs386833800
hgdprs386833800
ensemblrs386833800
gopubmedrs386833800
geneviewrs386833800
scholarrs386833800
googlers386833800
pharmgkbrs386833800
gwascentralrs386833800
openSNPrs386833800
23andMers386833800
23andMe allrs386833800
SNP Nexus

SNPshotrs386833800
SNPdbers386833800
MSV3drs386833800
GWAS Ctlgrs386833800
Max Magnitude0
ClinVar
Risk rs386833800(;)
Alt rs386833800(;)
Reference rs386833800(TTCT;TTCT)
Significance Probable-Pathogenic
Disease Lysinuric protein intolerance
Variation info
Gene SLC7A7
CLNDBN Lysinuric protein intolerance
Reversed 1
HGVS NC_000014.8:g.23243620_23243623delAGAA
CLNSRC ClinVar
CLNACC RCV000049765.1,


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


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


[PMID 15776427] Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene.


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