rs72554307

Orientation

plus

Stabilized

plus

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

Make rs72554307(C;T)

Make rs72554307(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

38367331

Gene

OTC

is a	snp
is	mentioned by
dbSNP	rs72554307
dbSNP (classic)	rs72554307
ClinGen	rs72554307
ebi	rs72554307
HLI	rs72554307
Exac	rs72554307
Gnomad	rs72554307
Varsome	rs72554307
LitVar	rs72554307
Map	rs72554307
PheGenI	rs72554307
Biobank	rs72554307
1000 genomes	rs72554307
hgdp	rs72554307
ensembl	rs72554307
geneview	rs72554307
scholar	rs72554307
google	rs72554307
pharmgkb	rs72554307
gwascentral	rs72554307
openSNP	rs72554307
23andMe	rs72554307
SNPshot	rs72554307
SNPdbe	rs72554307
MSV3d	rs72554307
GWAS Ctlg	rs72554307

Max Magnitude

0

ClinVar
Risk	rs72554307(T;T)
Alt	rs72554307(T;T)
Reference	Rs72554307(C;C)
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.38226584C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011760.6, RCV000083332.1,

[PMID 8956038] Ornithine transcarbamylase deficiency: characterization of gene mutations and polymorphisms.