rs67954347

plus

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

Make rs67954347(G;G)

Make rs67954347(G;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

38401367

Gene

OTC

is a	snp
is	mentioned by
dbSNP	rs67954347
dbSNP (classic)	rs67954347
ClinGen	rs67954347
ebi	rs67954347
HLI	rs67954347
Exac	rs67954347
Gnomad	rs67954347
Varsome	rs67954347
LitVar	rs67954347
Map	rs67954347
PheGenI	rs67954347
Biobank	rs67954347
1000 genomes	rs67954347
hgdp	rs67954347
ensembl	rs67954347
geneview	rs67954347
scholar	rs67954347
google	rs67954347
pharmgkb	rs67954347
gwascentral	rs67954347
openSNP	rs67954347
23andMe	rs67954347
SNPshot	rs67954347
SNPdbe	rs67954347
MSV3d	rs67954347
GWAS Ctlg	rs67954347

Max Magnitude

0

ClinVar
Risk	rs67954347(A;A) rs67954347(C;C) rs67954347(G;G)
Alt	rs67954347(A;A) rs67954347(C;C) rs67954347(G;G)
Reference	Rs67954347(T;T)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	OTC
CLNDBN	not provided
Reversed	0
HGVS	NC_000023.10:g.38260620T>A; NC_000023.10:g.38260620T>C; NC_000023.10:g.38260620T>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000083451.1, RCV000083452.1, RCV000083453.1,

[PMID 11793483] Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency.

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