rs72558412

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

38403694

Gene

OTC

is a	snp
is	mentioned by
dbSNP	rs72558412
dbSNP (classic)	rs72558412
ClinGen	rs72558412
ebi	rs72558412
HLI	rs72558412
Exac	rs72558412
Gnomad	rs72558412
Varsome	rs72558412
LitVar	rs72558412
Map	rs72558412
PheGenI	rs72558412
Biobank	rs72558412
1000 genomes	rs72558412
hgdp	rs72558412
ensembl	rs72558412
geneview	rs72558412
scholar	rs72558412
google	rs72558412
pharmgkb	rs72558412
gwascentral	rs72558412
openSNP	rs72558412
23andMe	rs72558412
SNPshot	rs72558412
SNPdbe	rs72558412
MSV3d	rs72558412
GWAS Ctlg	rs72558412

Max Magnitude

8.2

ClinVar
Risk	Rs72558412(G;G)
Alt	Rs72558412(G;G)
Reference	Rs72558412(T;T)
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.38262947T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011759.5, RCV000083513.1,

[PMID 16786505] Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.