rs68033093

plus

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

Make rs68033093(A;G)

Make rs68033093(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

38401412

Gene

OTC

is a	snp
is	mentioned by
dbSNP	rs68033093
dbSNP (classic)	rs68033093
ClinGen	rs68033093
ebi	rs68033093
HLI	rs68033093
Exac	rs68033093
Gnomad	rs68033093
Varsome	rs68033093
LitVar	rs68033093
Map	rs68033093
PheGenI	rs68033093
Biobank	rs68033093
1000 genomes	rs68033093
hgdp	rs68033093
ensembl	rs68033093
geneview	rs68033093
scholar	rs68033093
google	rs68033093
pharmgkb	rs68033093
gwascentral	rs68033093
openSNP	rs68033093
23andMe	rs68033093
SNPshot	rs68033093
SNPdbe	rs68033093
MSV3d	rs68033093
GWAS Ctlg	rs68033093

Max Magnitude

0

ClinVar
Risk	rs68033093(G;G) rs68033093(T;T)
Alt	rs68033093(G;G) rs68033093(T;T)
Reference	Rs68033093(A;A)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	OTC
CLNDBN	not provided
Reversed	0
HGVS	NC_000023.10:g.38260665A>G; NC_000023.10:g.38260665A>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000083472.1, RCV000083473.1,

[PMID 11117428] Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations.

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