rs67414444

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

38411938

Gene

OTC

is a	snp
is	mentioned by
dbSNP	rs67414444
dbSNP (classic)	rs67414444
ClinGen	rs67414444
ebi	rs67414444
HLI	rs67414444
Exac	rs67414444
Gnomad	rs67414444
Varsome	rs67414444
LitVar	rs67414444
Map	rs67414444
PheGenI	rs67414444
Biobank	rs67414444
1000 genomes	rs67414444
hgdp	rs67414444
ensembl	rs67414444
geneview	rs67414444
scholar	rs67414444
google	rs67414444
pharmgkb	rs67414444
gwascentral	rs67414444
openSNP	rs67414444
23andMe	rs67414444
SNPshot	rs67414444
SNPdbe	rs67414444
MSV3d	rs67414444
GWAS Ctlg	rs67414444

Max Magnitude

8.2

ClinVar
Risk	Rs67414444(A;A) rs67414444(G;G)
Alt	Rs67414444(A;A) rs67414444(G;G)
Reference	Rs67414444(T;T)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	OTC
CLNDBN	not provided
Reversed	0
HGVS	NC_000023.10:g.38271191T>A; NC_000023.10:g.38271191T>G
CLNSRC	ClinVar
CLNACC	RCV000083615.1, RCV000083616.1,

[PMID 11793468] Mutations and polymorphisms in the human ornithine transcarbamylase gene.