rs66556380

Orientation

plus

Stabilized

plus

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

Make rs66556380(A;T)

Make rs66556380(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

38401273

Gene

OTC

is a	snp
is	mentioned by
dbSNP	rs66556380
dbSNP (classic)	rs66556380
ClinGen	rs66556380
ebi	rs66556380
HLI	rs66556380
Exac	rs66556380
Gnomad	rs66556380
Varsome	rs66556380
LitVar	rs66556380
Map	rs66556380
PheGenI	rs66556380
Biobank	rs66556380
1000 genomes	rs66556380
hgdp	rs66556380
ensembl	rs66556380
geneview	rs66556380
scholar	rs66556380
google	rs66556380
pharmgkb	rs66556380
gwascentral	rs66556380
openSNP	rs66556380
23andMe	rs66556380
SNPshot	rs66556380
SNPdbe	rs66556380
MSV3d	rs66556380
GWAS Ctlg	rs66556380

Max Magnitude

0

ClinVar
Risk	rs66556380(C;C) rs66556380(G;G) rs66556380(T;T)
Alt	rs66556380(C;C) rs66556380(G;G) rs66556380(T;T)
Reference	Rs66556380(A;A)
Significance	Pathogenic
Disease	not provided Ornithine carbamoyltransferase deficiency
Variation	info
Gene	OTC
CLNDBN	not provided Ornithine carbamoyltransferase deficiency
Reversed	0
HGVS	NC_000023.10:g.38260526A>C; NC_000023.10:g.38260526A>G; NC_000023.10:g.38260526A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000083417.1, RCV000083418.1, RCV000011745.9, RCV000083419.1,

[PMID 2035531] Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiency.

[PMID 10946359] Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype.