rs386833799

Orientation

minus

Stabilized

minus

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

Make rs386833799(A;A)

Make rs386833799(A;C)

Reference

GRCh38 38.1/141

Chromosome

14

Position

22774441

Gene

SLC7A7

is a	snp
is	mentioned by
dbSNP	rs386833799
dbSNP (classic)	rs386833799
ClinGen	rs386833799
ebi	rs386833799
HLI	rs386833799
Exac	rs386833799
Gnomad	rs386833799
Varsome	rs386833799
LitVar	rs386833799
Map	rs386833799
PheGenI	rs386833799
Biobank	rs386833799
1000 genomes	rs386833799
hgdp	rs386833799
ensembl	rs386833799
geneview	rs386833799
scholar	rs386833799
google	rs386833799
pharmgkb	rs386833799
gwascentral	rs386833799
openSNP	rs386833799
23andMe	rs386833799
SNPshot	rs386833799
SNPdbe	rs386833799
MSV3d	rs386833799
GWAS Ctlg	rs386833799

Max Magnitude

0

ClinVar
Risk	rs386833799(A;A)
Alt	rs386833799(A;A)
Reference	Rs386833799(C;C)
Significance	Probable-Pathogenic
Disease	Lysinuric protein intolerance
Variation	info
Gene	SLC7A7
CLNDBN	Lysinuric protein intolerance
Reversed	1
HGVS	NC_000014.8:g.23243650G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000049764.1,

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

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