rs72558423

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

38403723

Gene

OTC

is a	snp
is	mentioned by
dbSNP	rs72558423
dbSNP (classic)	rs72558423
ClinGen	rs72558423
ebi	rs72558423
HLI	rs72558423
Exac	rs72558423
Gnomad	rs72558423
Varsome	rs72558423
LitVar	rs72558423
Map	rs72558423
PheGenI	rs72558423
Biobank	rs72558423
1000 genomes	rs72558423
hgdp	rs72558423
ensembl	rs72558423
geneview	rs72558423
scholar	rs72558423
google	rs72558423
pharmgkb	rs72558423
gwascentral	rs72558423
openSNP	rs72558423
23andMe	rs72558423
SNPshot	rs72558423
SNPdbe	rs72558423
MSV3d	rs72558423
GWAS Ctlg	rs72558423

Max Magnitude

8.2

ClinVar
Risk	Rs72558423(G;G)
Alt	Rs72558423(G;G)
Reference	Rs72558423(C;C)
Significance	Pathogenic
Disease	Ornithine carbamoyltransferase deficiency not provided
Variation	info
Gene	OTC
CLNDBN	Ornithine carbamoyltransferase deficiency not provided
Reversed	0
HGVS	NC_000023.10:g.38262976C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011737.6, RCV000083523.1,

[PMID 2474822] Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage.