rs67077695

Orientation

plus

Stabilized

plus

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

Make rs67077695(G;T)

Make rs67077695(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

38352774

Gene

OTC

is a	snp
is	mentioned by
dbSNP	rs67077695
dbSNP (classic)	rs67077695
ClinGen	rs67077695
ebi	rs67077695
HLI	rs67077695
Exac	rs67077695
Gnomad	rs67077695
Varsome	rs67077695
LitVar	rs67077695
Map	rs67077695
PheGenI	rs67077695
Biobank	rs67077695
1000 genomes	rs67077695
hgdp	rs67077695
ensembl	rs67077695
geneview	rs67077695
scholar	rs67077695
google	rs67077695
pharmgkb	rs67077695
gwascentral	rs67077695
openSNP	rs67077695
23andMe	rs67077695
SNPshot	rs67077695
SNPdbe	rs67077695
MSV3d	rs67077695
GWAS Ctlg	rs67077695

Max Magnitude

0

ClinVar
Risk	rs67077695(A;A) rs67077695(T;T)
Alt	rs67077695(A;A) rs67077695(T;T)
Reference	Rs67077695(G;G)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	OTC
CLNDBN	not provided
Reversed	0
HGVS	NC_000023.10:g.38212027G>A; NC_000023.10:g.38212027G>T
CLNSRC	ClinVar
CLNACC	RCV000083559.1, RCV000083560.1,

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

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