rs121908127

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	3	Carrier of a nephropathic cystinosis mutation
(G;G)	0	common in clinvar

Make rs121908127(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

3660280

Gene

CTNS

is a	snp
is	mentioned by
dbSNP	rs121908127
dbSNP (classic)	rs121908127
ClinGen	rs121908127
ebi	rs121908127
HLI	rs121908127
Exac	rs121908127
Gnomad	rs121908127
Varsome	rs121908127
LitVar	rs121908127
Map	rs121908127
PheGenI	rs121908127
Biobank	rs121908127
1000 genomes	rs121908127
hgdp	rs121908127
ensembl	rs121908127
geneview	rs121908127
scholar	rs121908127
google	rs121908127
pharmgkb	rs121908127
gwascentral	rs121908127
openSNP	rs121908127
23andMe	rs121908127
SNPshot	rs121908127
SNPdbe	rs121908127
MSV3d	rs121908127
GWAS Ctlg	rs121908127

Max Magnitude

3

aka c.1015G>A (p.Gly339Arg or G339R)

OMIM	606272
Desc
Variant	0015
Related	also

ClinVar
Risk	rs121908127(A;A)
Alt	rs121908127(A;A)
Reference	Rs121908127(G;G)
Significance	Pathogenic
Disease	Nephropathic cystinosis
Variation	info
Gene	CTNS
CLNDBN	Nephropathic cystinosis
Reversed	0
HGVS	NC_000017.10:g.3563574G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004708.2,