rs66550389

Orientation

plus

Stabilized

plus

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

Make rs66550389(G;T)

Make rs66550389(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

38369854

Gene

OTC

is a	snp
is	mentioned by
dbSNP	rs66550389
dbSNP (classic)	rs66550389
ClinGen	rs66550389
ebi	rs66550389
HLI	rs66550389
Exac	rs66550389
Gnomad	rs66550389
Varsome	rs66550389
LitVar	rs66550389
Map	rs66550389
PheGenI	rs66550389
Biobank	rs66550389
1000 genomes	rs66550389
hgdp	rs66550389
ensembl	rs66550389
geneview	rs66550389
scholar	rs66550389
google	rs66550389
pharmgkb	rs66550389
gwascentral	rs66550389
openSNP	rs66550389
23andMe	rs66550389
SNPshot	rs66550389
SNPdbe	rs66550389
MSV3d	rs66550389
GWAS Ctlg	rs66550389

Max Magnitude

0

ClinVar
Risk	rs66550389(A;A) rs66550389(C;C) rs66550389(T;T)
Alt	rs66550389(A;A) rs66550389(C;C) rs66550389(T;T)
Reference	Rs66550389(G;G)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	OTC
CLNDBN	not provided
Reversed	0
HGVS	NC_000023.10:g.38229107G>A; NC_000023.10:g.38229107G>C; NC_000023.10:g.38229107G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000083384.3, RCV000083385.1, RCV000083386.1,

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

[PMID 1671317] Improved molecular diagnostics for ornithine transcarbamylase deficiency.