rs67960011

Orientation

plus

Stabilized

plus

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

Make rs67960011(C;G)

Make rs67960011(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

38401309

Gene

OTC

is a	snp
is	mentioned by
dbSNP	rs67960011
dbSNP (classic)	rs67960011
ClinGen	rs67960011
ebi	rs67960011
HLI	rs67960011
Exac	rs67960011
Gnomad	rs67960011
Varsome	rs67960011
LitVar	rs67960011
Map	rs67960011
PheGenI	rs67960011
Biobank	rs67960011
1000 genomes	rs67960011
hgdp	rs67960011
ensembl	rs67960011
geneview	rs67960011
scholar	rs67960011
google	rs67960011
pharmgkb	rs67960011
gwascentral	rs67960011
openSNP	rs67960011
23andMe	rs67960011
SNPshot	rs67960011
SNPdbe	rs67960011
MSV3d	rs67960011
GWAS Ctlg	rs67960011

Max Magnitude

0

OMIM	300461
Desc
Variant	0003
Related	also

ClinVar
Risk	rs67960011(G;G) rs67960011(T;T)
Alt	rs67960011(G;G) rs67960011(T;T)
Reference	Rs67960011(C;C)
Significance	Pathogenic
Disease	not provided Ornithine carbamoyltransferase deficiency
Variation	info
Gene	OTC
CLNDBN	not provided Ornithine carbamoyltransferase deficiency
Reversed	0
HGVS	NC_000023.10:g.38260562C>G; NC_000023.10:g.38260562C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000083432.1, RCV000011735.6, RCV000083433.1,

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

[PMID 2741942] Ornithine transcarbamylase deficiency resulting from a C-to-T substitution in exon 5 of the ornithine transcarbamylase gene.