rs386833822

Orientation

minus

Stabilized

minus

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

Make rs386833822(A;A)

Make rs386833822(A;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

22779925

Gene

SLC7A7

is a	snp
is	mentioned by
dbSNP	rs386833822
dbSNP (classic)	rs386833822
ClinGen	rs386833822
ebi	rs386833822
HLI	rs386833822
Exac	rs386833822
Gnomad	rs386833822
Varsome	rs386833822
LitVar	rs386833822
Map	rs386833822
PheGenI	rs386833822
Biobank	rs386833822
1000 genomes	rs386833822
hgdp	rs386833822
ensembl	rs386833822
geneview	rs386833822
scholar	rs386833822
google	rs386833822
pharmgkb	rs386833822
gwascentral	rs386833822
openSNP	rs386833822
23andMe	rs386833822
SNPshot	rs386833822
SNPdbe	rs386833822
MSV3d	rs386833822
GWAS Ctlg	rs386833822

Max Magnitude

0

ClinVar
Risk	rs386833822(A;A) rs386833822(C;C)
Alt	rs386833822(A;A) rs386833822(C;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 18716612] Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.