rs72554308

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

38367332

Gene

OTC

is a	snp
is	mentioned by
dbSNP	rs72554308
dbSNP (classic)	rs72554308
ClinGen	rs72554308
ebi	rs72554308
HLI	rs72554308
Exac	rs72554308
Gnomad	rs72554308
Varsome	rs72554308
LitVar	rs72554308
Map	rs72554308
PheGenI	rs72554308
Biobank	rs72554308
1000 genomes	rs72554308
hgdp	rs72554308
ensembl	rs72554308
geneview	rs72554308
scholar	rs72554308
google	rs72554308
pharmgkb	rs72554308
gwascentral	rs72554308
openSNP	rs72554308
23andMe	rs72554308
SNPshot	rs72554308
SNPdbe	rs72554308
MSV3d	rs72554308
GWAS Ctlg	rs72554308

Max Magnitude

8.2

ClinVar
Risk	Rs72554308(A;A)
Alt	Rs72554308(A;A)
Reference	Rs72554308(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.38226585G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011761.9, RCV000083333.1,

[PMID 7951259] Seven new mutations in the human ornithine transcarbamylase gene.