rs68058881

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

38369878

Gene

OTC

is a	snp
is	mentioned by
dbSNP	rs68058881
dbSNP (classic)	rs68058881
ClinGen	rs68058881
ebi	rs68058881
HLI	rs68058881
Exac	rs68058881
Gnomad	rs68058881
Varsome	rs68058881
LitVar	rs68058881
Map	rs68058881
PheGenI	rs68058881
Biobank	rs68058881
1000 genomes	rs68058881
hgdp	rs68058881
ensembl	rs68058881
geneview	rs68058881
scholar	rs68058881
google	rs68058881
pharmgkb	rs68058881
gwascentral	rs68058881
openSNP	rs68058881
23andMe	rs68058881
SNPshot	rs68058881
SNPdbe	rs68058881
MSV3d	rs68058881
GWAS Ctlg	rs68058881

Max Magnitude

8.2

ClinVar
Risk	Rs68058881(A;A) rs68058881(T;T)
Alt	Rs68058881(A;A) rs68058881(T;T)
Reference	Rs68058881(G;G)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	OTC
CLNDBN	not provided
Reversed	0
HGVS	NC_000023.10:g.38229131G>A; NC_000023.10:g.38229131G>T
CLNSRC	ClinVar
CLNACC	RCV000083392.1, RCV000083393.1,

[PMID 9427144] Missense mutations in codon 225 of ornithine transcarbamylase (OTC) result in decreased amounts of OTC protein: a hypothesis on the molecular mechanism of the OTC deficiency.

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