rs67939655

Orientation

plus

Stabilized

plus

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

Make rs67939655(A;C)

Make rs67939655(C;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

38367353

Gene

OTC

is a	snp
is	mentioned by
dbSNP	rs67939655
dbSNP (classic)	rs67939655
ClinGen	rs67939655
ebi	rs67939655
HLI	rs67939655
Exac	rs67939655
Gnomad	rs67939655
Varsome	rs67939655
LitVar	rs67939655
Map	rs67939655
PheGenI	rs67939655
Biobank	rs67939655
1000 genomes	rs67939655
hgdp	rs67939655
ensembl	rs67939655
geneview	rs67939655
scholar	rs67939655
google	rs67939655
pharmgkb	rs67939655
gwascentral	rs67939655
openSNP	rs67939655
23andMe	rs67939655
SNPshot	rs67939655
SNPdbe	rs67939655
MSV3d	rs67939655
GWAS Ctlg	rs67939655

Max Magnitude

0

ClinVar
Risk	rs67939655(C;C) rs67939655(T;T)
Alt	rs67939655(C;C) rs67939655(T;T)
Reference	Rs67939655(A;A)
Significance	Pathogenic
Disease	not provided Ornithine carbamoyltransferase deficiency not specified
Variation	info
Gene	OTC
CLNDBN	not provided Ornithine carbamoyltransferase deficiency not specified
Reversed	0
HGVS	NC_000023.10:g.38226606A>C; NC_000023.10:g.38226606A>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000083340.1, RCV000148720.1, RCV000454814.1, RCV000083341.1,

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

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