rs66656800

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 rs66656800(C;C)

Make rs66656800(C;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

38381429

Gene

OTC

is a	snp
is	mentioned by
dbSNP	rs66656800
dbSNP (classic)	rs66656800
ClinGen	rs66656800
ebi	rs66656800
HLI	rs66656800
Exac	rs66656800
Gnomad	rs66656800
Varsome	rs66656800
LitVar	rs66656800
Map	rs66656800
PheGenI	rs66656800
Biobank	rs66656800
1000 genomes	rs66656800
hgdp	rs66656800
ensembl	rs66656800
geneview	rs66656800
scholar	rs66656800
google	rs66656800
pharmgkb	rs66656800
gwascentral	rs66656800
openSNP	rs66656800
23andMe	rs66656800
SNPshot	rs66656800
SNPdbe	rs66656800
MSV3d	rs66656800
GWAS Ctlg	rs66656800

Max Magnitude

8.2

OMIM	300461
Desc
Variant	0025
Related	also

ClinVar
Risk	Rs66656800(A;A) rs66656800(C;C) rs66656800(T;T)
Alt	Rs66656800(A;A) rs66656800(C;C) rs66656800(T;T)
Reference	Rs66656800(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.38240682G>A; NC_000023.10:g.38240682G>C; NC_000023.10:g.38240682G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011757.9, RCV000083414.1, RCV000083415.1, RCV000083416.1,

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

[PMID 7951259] Seven new mutations in the human ornithine transcarbamylase gene.

[PMID 8281162] Novel mutation affecting a splice site in exon 4 of the ornithine carbamoyl transferase gene.