rs121908526

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a type I primary hyperoxaluria mutation

Make rs121908526(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

240875125

Gene

AGXT

is a	snp
is	mentioned by
dbSNP	rs121908526
dbSNP (classic)	rs121908526
ClinGen	rs121908526
ebi	rs121908526
HLI	rs121908526
Exac	rs121908526
Gnomad	rs121908526
Varsome	rs121908526
LitVar	rs121908526
Map	rs121908526
PheGenI	rs121908526
Biobank	rs121908526
1000 genomes	rs121908526
hgdp	rs121908526
ensembl	rs121908526
geneview	rs121908526
scholar	rs121908526
google	rs121908526
pharmgkb	rs121908526
gwascentral	rs121908526
openSNP	rs121908526
23andMe	rs121908526
SNPshot	rs121908526
SNPdbe	rs121908526
MSV3d	rs121908526
GWAS Ctlg	rs121908526

Max Magnitude

3

c.697C>T (p.Arg233Cys or R233C)

OMIM	604285
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121908526(T;T)
Alt	rs121908526(T;T)
Reference	Rs121908526(C;C)
Significance	Pathogenic
Disease	Primary hyperoxaluria
Variation	info
Gene	AGXT
CLNDBN	Primary hyperoxaluria, type I
Reversed	0
HGVS	NC_000002.11:g.241814542C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006001.5,