rs72554345

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	8.2	Ornithine Transcarbamylase Deficiency
(C;G)	3	Carrier of an ornithine carbamoyltransferase mutation
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

X

Position

38369860

Gene

OTC

is a	snp
is	mentioned by
dbSNP	rs72554345
dbSNP (classic)	rs72554345
ClinGen	rs72554345
ebi	rs72554345
HLI	rs72554345
Exac	rs72554345
Gnomad	rs72554345
Varsome	rs72554345
LitVar	rs72554345
Map	rs72554345
PheGenI	rs72554345
Biobank	rs72554345
1000 genomes	rs72554345
hgdp	rs72554345
ensembl	rs72554345
geneview	rs72554345
scholar	rs72554345
google	rs72554345
pharmgkb	rs72554345
gwascentral	rs72554345
openSNP	rs72554345
23andMe	rs72554345
SNPshot	rs72554345
SNPdbe	rs72554345
MSV3d	rs72554345
GWAS Ctlg	rs72554345

Max Magnitude

8.2

OMIM	300461
Desc
Variant	0022
Related	also

ClinVar
Risk	Rs72554345(C;C)
Alt	Rs72554345(C;C)
Reference	Rs72554345(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.38229113G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011754.6, RCV000083388.1,

[PMID 1480464] Six new mutations in the ornithine transcarbamylase gene detected by single-strand conformational polymorphism.