rs66539573

Orientation

plus

Stabilized

plus

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

Make rs66539573(A;G)

Make rs66539573(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

38381393

Gene

OTC

is a	snp
is	mentioned by
dbSNP	rs66539573
dbSNP (classic)	rs66539573
ClinGen	rs66539573
ebi	rs66539573
HLI	rs66539573
Exac	rs66539573
Gnomad	rs66539573
Varsome	rs66539573
LitVar	rs66539573
Map	rs66539573
PheGenI	rs66539573
Biobank	rs66539573
1000 genomes	rs66539573
hgdp	rs66539573
ensembl	rs66539573
geneview	rs66539573
scholar	rs66539573
google	rs66539573
pharmgkb	rs66539573
gwascentral	rs66539573
openSNP	rs66539573
23andMe	rs66539573
SNPshot	rs66539573
SNPdbe	rs66539573
MSV3d	rs66539573
GWAS Ctlg	rs66539573

Max Magnitude

0

ClinVar
Risk	rs66539573(G;G) rs66539573(T;T)
Alt	rs66539573(G;G) rs66539573(T;T)
Reference	Rs66539573(A;A)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	OTC
CLNDBN	not provided
Reversed	0
HGVS	NC_000023.10:g.38240646A>G; NC_000023.10:g.38240646A>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000083404.1, RCV000083405.1,

[PMID 9590019] [Ornithine transcarbamylase deficiency (OTCD)].

[PMID 8019569] The ornithine transcarbamylase gene: new "private" mutations in four patients and study of a polymorphism.