rs67468335

Orientation

plus

Stabilized

plus

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

Make rs67468335(C;C)

Make rs67468335(C;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

38411901

Gene

OTC

is a	snp
is	mentioned by
dbSNP	rs67468335
dbSNP (classic)	rs67468335
ClinGen	rs67468335
ebi	rs67468335
HLI	rs67468335
Exac	rs67468335
Gnomad	rs67468335
Varsome	rs67468335
LitVar	rs67468335
Map	rs67468335
PheGenI	rs67468335
Biobank	rs67468335
1000 genomes	rs67468335
hgdp	rs67468335
ensembl	rs67468335
geneview	rs67468335
scholar	rs67468335
google	rs67468335
pharmgkb	rs67468335
gwascentral	rs67468335
openSNP	rs67468335
23andMe	rs67468335
SNPshot	rs67468335
SNPdbe	rs67468335
MSV3d	rs67468335
GWAS Ctlg	rs67468335

Max Magnitude

0

ClinVar
Risk	rs67468335(C;C) rs67468335(G;G)
Alt	rs67468335(C;C) rs67468335(G;G)
Reference	Rs67468335(T;T)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	OTC
CLNDBN	not provided
Reversed	0
HGVS	NC_000023.10:g.38271154T>C; NC_000023.10:g.38271154T>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000083604.1, RCV000083605.1,

[PMID 9452049] Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemia.

[PMID 11793468] Mutations and polymorphisms in the human ornithine transcarbamylase gene.