rs66741318

Orientation

plus

Stabilized

plus

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

Make rs66741318(C;C)

Make rs66741318(C;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

38401332

Gene

OTC

is a	snp
is	mentioned by
dbSNP	rs66741318
dbSNP (classic)	rs66741318
ClinGen	rs66741318
ebi	rs66741318
HLI	rs66741318
Exac	rs66741318
Gnomad	rs66741318
Varsome	rs66741318
LitVar	rs66741318
Map	rs66741318
PheGenI	rs66741318
Biobank	rs66741318
1000 genomes	rs66741318
hgdp	rs66741318
ensembl	rs66741318
geneview	rs66741318
scholar	rs66741318
google	rs66741318
pharmgkb	rs66741318
gwascentral	rs66741318
openSNP	rs66741318
23andMe	rs66741318
SNPshot	rs66741318
SNPdbe	rs66741318
MSV3d	rs66741318
GWAS Ctlg	rs66741318

Max Magnitude

0

ClinVar
Risk	rs66741318(C;C) rs66741318(T;T)
Alt	rs66741318(C;C) rs66741318(T;T)
Reference	Rs66741318(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.38260585G>C; NC_000023.10:g.38260585G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011758.6, RCV000083441.1, RCV000083442.1,

[PMID 9056557] Familial lethal inheritance of a mutated paternal gene in females causing X-linked ornithine transcarbamylase (OTC) deficiency.

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