rs72554312

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

38367347

Gene

OTC

is a	snp
is	mentioned by
dbSNP	rs72554312
dbSNP (classic)	rs72554312
ClinGen	rs72554312
ebi	rs72554312
HLI	rs72554312
Exac	rs72554312
Gnomad	rs72554312
Varsome	rs72554312
LitVar	rs72554312
Map	rs72554312
PheGenI	rs72554312
Biobank	rs72554312
1000 genomes	rs72554312
hgdp	rs72554312
ensembl	rs72554312
geneview	rs72554312
scholar	rs72554312
google	rs72554312
pharmgkb	rs72554312
gwascentral	rs72554312
openSNP	rs72554312
23andMe	rs72554312
SNPshot	rs72554312
SNPdbe	rs72554312
MSV3d	rs72554312
GWAS Ctlg	rs72554312

Max Magnitude

8.2

ClinVar
Risk	Rs72554312(C;C)
Alt	Rs72554312(C;C)
Reference	Rs72554312(T;T)
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.38226600T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011739.3, RCV000083338.1,

[PMID 2474822] Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage.