rs67120076

plus

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

Make rs67120076(C;G)

Make rs67120076(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

38408752

Gene

OTC

is a	snp
is	mentioned by
dbSNP	rs67120076
dbSNP (classic)	rs67120076
ClinGen	rs67120076
ebi	rs67120076
HLI	rs67120076
Exac	rs67120076
Gnomad	rs67120076
Varsome	rs67120076
LitVar	rs67120076
Map	rs67120076
PheGenI	rs67120076
Biobank	rs67120076
1000 genomes	rs67120076
hgdp	rs67120076
ensembl	rs67120076
geneview	rs67120076
scholar	rs67120076
google	rs67120076
pharmgkb	rs67120076
gwascentral	rs67120076
openSNP	rs67120076
23andMe	rs67120076
SNPshot	rs67120076
SNPdbe	rs67120076
MSV3d	rs67120076
GWAS Ctlg	rs67120076

Max Magnitude

0

ClinVar
Risk	rs67120076(G;G) rs67120076(T;T)
Alt	rs67120076(G;G) rs67120076(T;T)
Reference	Rs67120076(C;C)
Significance	Other
Disease	not provided Ornithine carbamoyltransferase deficiency
Variation	info
Gene	OTC
CLNDBN	not provided Ornithine carbamoyltransferase deficiency
Reversed	0
HGVS	NC_000023.10:g.38268005C>G; NC_000023.10:g.38268005C>T
CLNSRC	UniProtKB (protein) OMIM Allelic Variant
CLNACC	RCV000083535.1, RCV000011747.8, RCV000083536.1,

[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 1721894] Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene.