rs67486158

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs67486158(A;A)

Make rs67486158(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

38367361

Gene

OTC

is a	snp
is	mentioned by
dbSNP	rs67486158
dbSNP (classic)	rs67486158
ClinGen	rs67486158
ebi	rs67486158
HLI	rs67486158
Exac	rs67486158
Gnomad	rs67486158
Varsome	rs67486158
LitVar	rs67486158
Map	rs67486158
PheGenI	rs67486158
Biobank	rs67486158
1000 genomes	rs67486158
hgdp	rs67486158
ensembl	rs67486158
geneview	rs67486158
scholar	rs67486158
google	rs67486158
pharmgkb	rs67486158
gwascentral	rs67486158
openSNP	rs67486158
23andMe	rs67486158
SNPshot	rs67486158
SNPdbe	rs67486158
MSV3d	rs67486158
GWAS Ctlg	rs67486158

Max Magnitude

0

ClinVar
Risk	rs67486158(A;A) rs67486158(T;T)
Alt	rs67486158(A;A) rs67486158(T;T)
Reference	Rs67486158(G;G)
Significance	Pathogenic
Disease	not provided Ornithine carbamoyltransferase deficiency
Variation	info
Gene	OTC
CLNDBN	not provided Ornithine carbamoyltransferase deficiency
Reversed	0
HGVS	NC_000023.10:g.38226614G>A; NC_000023.10:g.38226614G>T
CLNSRC	UniProtKB (protein) OMIM Allelic Variant
CLNACC	RCV000083345.1, RCV000011749.9, RCV000083346.1,

[PMID 9266388] Identification of 'private' mutations in patients with ornithine transcarbamylase deficiency.

[PMID 1353535] Site specific screening for point mutations in ornithine transcarbamylase deficiency.