rs72554338

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

38369838

Gene

OTC

is a	snp
is	mentioned by
dbSNP	rs72554338
dbSNP (classic)	rs72554338
ClinGen	rs72554338
ebi	rs72554338
HLI	rs72554338
Exac	rs72554338
Gnomad	rs72554338
Varsome	rs72554338
LitVar	rs72554338
Map	rs72554338
PheGenI	rs72554338
Biobank	rs72554338
1000 genomes	rs72554338
hgdp	rs72554338
ensembl	rs72554338
geneview	rs72554338
scholar	rs72554338
google	rs72554338
pharmgkb	rs72554338
gwascentral	rs72554338
openSNP	rs72554338
23andMe	rs72554338
SNPshot	rs72554338
SNPdbe	rs72554338
MSV3d	rs72554338
GWAS Ctlg	rs72554338

Max Magnitude

8.2

ClinVar
Risk	Rs72554338(A;A)
Alt	Rs72554338(A;A)
Reference	Rs72554338(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.38229091G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011748.5, RCV000083376.1,

[PMID 1353535] Site specific screening for point mutations in ornithine transcarbamylase deficiency.