rs72556260

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	8.2	Ornithine Transcarbamylase Deficiency
(C;G)	3	Carrier of an ornithine carbamoyltransferase mutation
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

X

Position

38401306

Gene

OTC

is a	snp
is	mentioned by
dbSNP	rs72556260
dbSNP (classic)	rs72556260
ClinGen	rs72556260
ebi	rs72556260
HLI	rs72556260
Exac	rs72556260
Gnomad	rs72556260
Varsome	rs72556260
LitVar	rs72556260
Map	rs72556260
PheGenI	rs72556260
Biobank	rs72556260
1000 genomes	rs72556260
hgdp	rs72556260
ensembl	rs72556260
geneview	rs72556260
scholar	rs72556260
google	rs72556260
pharmgkb	rs72556260
gwascentral	rs72556260
openSNP	rs72556260
23andMe	rs72556260
SNPshot	rs72556260
SNPdbe	rs72556260
MSV3d	rs72556260
GWAS Ctlg	rs72556260

Max Magnitude

8.2

ClinVar
Risk	Rs72556260(C;C)
Alt	Rs72556260(C;C)
Reference	Rs72556260(G;G)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	OTC
CLNDBN	not provided
Reversed	0
HGVS	NC_000023.10:g.38260559G>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000083431.1,