rs113994205

Orientation

plus

Stabilized

plus

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

Make rs113994205(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

3655305

Gene	CTNS, LOC105371492

is a	snp
is	mentioned by
dbSNP	rs113994205
dbSNP (classic)	rs113994205
ClinGen	rs113994205
ebi	rs113994205
HLI	rs113994205
Exac	rs113994205
Gnomad	rs113994205
Varsome	rs113994205
LitVar	rs113994205
Map	rs113994205
PheGenI	rs113994205
Biobank	rs113994205
1000 genomes	rs113994205
hgdp	rs113994205
ensembl	rs113994205
geneview	rs113994205
scholar	rs113994205
google	rs113994205
pharmgkb	rs113994205
gwascentral	rs113994205
openSNP	rs113994205
23andMe	rs113994205
SNPshot	rs113994205
SNPdbe	rs113994205
MSV3d	rs113994205
GWAS Ctlg	rs113994205

Max Magnitude

3

OMIM	606272
Desc
Variant	0003
Related	also

ClinVar
Risk	rs113994205(A;A)
Alt	rs113994205(A;A)
Reference	Rs113994205(G;G)
Significance	Pathogenic
Disease	Nephropathic cystinosis
Variation	info
Gene	CTNS
CLNDBN	Nephropathic cystinosis
Reversed	0
HGVS	NC_000017.10:g.3558599G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004693.4,

[PMID 9537412] A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.

[PMID 10482956] Molecular analysis of cystinosis: probable Irish origin of the most common French Canadian mutation.