rs72556267

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

38401348

Gene

OTC

is a	snp
is	mentioned by
dbSNP	rs72556267
dbSNP (classic)	rs72556267
ClinGen	rs72556267
ebi	rs72556267
HLI	rs72556267
Exac	rs72556267
Gnomad	rs72556267
Varsome	rs72556267
LitVar	rs72556267
Map	rs72556267
PheGenI	rs72556267
Biobank	rs72556267
1000 genomes	rs72556267
hgdp	rs72556267
ensembl	rs72556267
geneview	rs72556267
scholar	rs72556267
google	rs72556267
pharmgkb	rs72556267
gwascentral	rs72556267
openSNP	rs72556267
23andMe	rs72556267
SNPshot	rs72556267
SNPdbe	rs72556267
MSV3d	rs72556267
GWAS Ctlg	rs72556267

Max Magnitude

8.2

ClinVar
Risk	Rs72556267(T;T)
Alt	Rs72556267(T;T)
Reference	Rs72556267(G;G)
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.38260601G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011738.10, RCV000083446.1,

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