rs66521141

Orientation

plus

Stabilized

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

38367367

Gene

OTC

is a	snp
is	mentioned by
dbSNP	rs66521141
dbSNP (classic)	rs66521141
ClinGen	rs66521141
ebi	rs66521141
HLI	rs66521141
Exac	rs66521141
Gnomad	rs66521141
Varsome	rs66521141
LitVar	rs66521141
Map	rs66521141
PheGenI	rs66521141
Biobank	rs66521141
1000 genomes	rs66521141
hgdp	rs66521141
ensembl	rs66521141
geneview	rs66521141
scholar	rs66521141
google	rs66521141
pharmgkb	rs66521141
gwascentral	rs66521141
openSNP	rs66521141
23andMe	rs66521141
SNPshot	rs66521141
SNPdbe	rs66521141
MSV3d	rs66521141
GWAS Ctlg	rs66521141

Max Magnitude

8.2

ClinVar
Risk	Rs66521141(A;A) rs66521141(T;T)
Alt	Rs66521141(A;A) rs66521141(T;T)
Reference	Rs66521141(G;G)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	OTC
CLNDBN	not provided
Reversed	0
HGVS	NC_000023.10:g.38226620G>A; NC_000023.10:g.38226620G>T
CLNSRC	ClinVar
CLNACC	RCV000083347.1, RCV000083348.1,

[PMID 10946359] Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype.