rs386833795

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs386833795(A;A)

Make rs386833795(A;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

22775526

Gene

SLC7A7

is a	snp
is	mentioned by
dbSNP	rs386833795
dbSNP (classic)	rs386833795
ClinGen	rs386833795
ebi	rs386833795
HLI	rs386833795
Exac	rs386833795
Gnomad	rs386833795
Varsome	rs386833795
LitVar	rs386833795
Map	rs386833795
PheGenI	rs386833795
Biobank	rs386833795
1000 genomes	rs386833795
hgdp	rs386833795
ensembl	rs386833795
geneview	rs386833795
scholar	rs386833795
google	rs386833795
pharmgkb	rs386833795
gwascentral	rs386833795
openSNP	rs386833795
23andMe	rs386833795
SNPshot	rs386833795
SNPdbe	rs386833795
MSV3d	rs386833795
GWAS Ctlg	rs386833795

Max Magnitude

0

ClinVar
Risk	rs386833795(A;A)
Alt	rs386833795(A;A)
Reference	Rs386833795(G;G)
Significance	Probable-Pathogenic
Disease	Lysinuric protein intolerance
Variation	info
Gene	SLC7A7
CLNDBN	Lysinuric protein intolerance
Reversed	1
HGVS	NC_000014.8:g.23244735C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000049760.1,

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