rs121908525

Orientation

plus

Stabilized

plus

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

Make rs121908525(C;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

240875159

Gene

AGXT

is a	snp
is	mentioned by
dbSNP	rs121908525
dbSNP (classic)	rs121908525
ClinGen	rs121908525
ebi	rs121908525
HLI	rs121908525
Exac	rs121908525
Gnomad	rs121908525
Varsome	rs121908525
LitVar	rs121908525
Map	rs121908525
PheGenI	rs121908525
Biobank	rs121908525
1000 genomes	rs121908525
hgdp	rs121908525
ensembl	rs121908525
geneview	rs121908525
scholar	rs121908525
google	rs121908525
pharmgkb	rs121908525
gwascentral	rs121908525
openSNP	rs121908525
23andMe	rs121908525
SNPshot	rs121908525
SNPdbe	rs121908525
MSV3d	rs121908525
GWAS Ctlg	rs121908525

Max Magnitude

3

aka c.731T>C (p.Ile244Thr or I244T)

OMIM	604285
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121908525(C;C)
Alt	rs121908525(C;C)
Reference	Rs121908525(T;T)
Significance	Pathogenic
Disease	Primary hyperoxaluria
Variation	info
Gene	AGXT
CLNDBN	Primary hyperoxaluria, type I
Reversed	0
HGVS	NC_000002.11:g.241814576T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006000.5,