rs121908677

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;T)	3	Carrier of a lysinuric protein intolerance mutation

Make rs121908677(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

22813238

Gene

SLC7A7

is a	snp
is	mentioned by
dbSNP	rs121908677
dbSNP (classic)	rs121908677
ClinGen	rs121908677
ebi	rs121908677
HLI	rs121908677
Exac	rs121908677
Gnomad	rs121908677
Varsome	rs121908677
LitVar	rs121908677
Map	rs121908677
PheGenI	rs121908677
Biobank	rs121908677
1000 genomes	rs121908677
hgdp	rs121908677
ensembl	rs121908677
geneview	rs121908677
scholar	rs121908677
google	rs121908677
pharmgkb	rs121908677
gwascentral	rs121908677
openSNP	rs121908677
23andMe	rs121908677
SNPshot	rs121908677
SNPdbe	rs121908677
MSV3d	rs121908677
GWAS Ctlg	rs121908677

Max Magnitude

3

aka c.161G>T (p.Gly54Val or G54V)

OMIM	603593
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121908677(T;T)
Alt	rs121908677(T;T)
Reference	Rs121908677(G;G)
Significance	Pathogenic
Disease	Lysinuric protein intolerance
Variation	info
Gene	SLC7A7
CLNDBN	Lysinuric protein intolerance
Reversed	1
HGVS	NC_000014.8:g.23282447C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006589.4,