rs68031618

Orientation

plus

Stabilized

plus

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

Make rs68031618(A;A)

Make rs68031618(A;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

38352773

Gene

OTC

is a	snp
is	mentioned by
dbSNP	rs68031618
dbSNP (classic)	rs68031618
ClinGen	rs68031618
ebi	rs68031618
HLI	rs68031618
Exac	rs68031618
Gnomad	rs68031618
Varsome	rs68031618
LitVar	rs68031618
Map	rs68031618
PheGenI	rs68031618
Biobank	rs68031618
1000 genomes	rs68031618
hgdp	rs68031618
ensembl	rs68031618
geneview	rs68031618
scholar	rs68031618
google	rs68031618
pharmgkb	rs68031618
gwascentral	rs68031618
openSNP	rs68031618
23andMe	rs68031618
SNPshot	rs68031618
SNPdbe	rs68031618
MSV3d	rs68031618
GWAS Ctlg	rs68031618

Max Magnitude

0

ClinVar
Risk	rs68031618(A;A) rs68031618(C;C)
Alt	rs68031618(A;A) rs68031618(C;C)
Reference	Rs68031618(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.38212026G>A; NC_000023.10:g.38212026G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011740.7, RCV000083565.3, RCV000083566.1,

[PMID 2474822] Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage.

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