rs66626662

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

Make rs66626662(C;C)

Make rs66626662(C;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

38401372

Gene

OTC

is a	snp
is	mentioned by
dbSNP	rs66626662
dbSNP (classic)	rs66626662
ClinGen	rs66626662
ebi	rs66626662
HLI	rs66626662
Exac	rs66626662
Gnomad	rs66626662
Varsome	rs66626662
LitVar	rs66626662
Map	rs66626662
PheGenI	rs66626662
Biobank	rs66626662
1000 genomes	rs66626662
hgdp	rs66626662
ensembl	rs66626662
geneview	rs66626662
scholar	rs66626662
google	rs66626662
pharmgkb	rs66626662
gwascentral	rs66626662
openSNP	rs66626662
23andMe	rs66626662
SNPshot	rs66626662
SNPdbe	rs66626662
MSV3d	rs66626662
GWAS Ctlg	rs66626662

Max Magnitude

8.2

ClinVar
Risk	Rs66626662(A;A) rs66626662(C;C)
Alt	Rs66626662(A;A) rs66626662(C;C)
Reference	Rs66626662(G;G)
Significance	Pathogenic
Disease	Ornithine carbamoyltransferase deficiency not provided
Variation	info
Gene	OTC
CLNDBN	Ornithine carbamoyltransferase deficiency not provided
Reversed	0
HGVS	NC_000023.10:g.38260625G>A; NC_000023.10:g.38260625G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011750.2, RCV000083456.1, RCV000083457.1,

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

[PMID 1353535] Site specific screening for point mutations in ornithine transcarbamylase deficiency.