rs72552297

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0.1	Good if from 23andMe; bad otherwise (see explanation)
(-;AACA)	3	Carrier of an ornithine transcarbamylase deficiency (OTD) mutation
(AAAC;AAAC)	0	common in clinvar
(AACA;AACA)	0	common in clinvar
(I;I)	0	common genotype

Reference

GRCh38 38.1/141

Chromosome

X

Position

38352724

Gene

OTC

is a	snp
is	mentioned by
dbSNP	rs72552297
dbSNP (classic)	rs72552297
ClinGen	rs72552297
ebi	rs72552297
HLI	rs72552297
Exac	rs72552297
Gnomad	rs72552297
Varsome	rs72552297
LitVar	rs72552297
Map	rs72552297
PheGenI	rs72552297
Biobank	rs72552297
1000 genomes	rs72552297
hgdp	rs72552297
ensembl	rs72552297
geneview	rs72552297
scholar	rs72552297
google	rs72552297
pharmgkb	rs72552297
gwascentral	rs72552297
openSNP	rs72552297
23andMe	rs72552297
SNPshot	rs72552297
SNPdbe	rs72552297
MSV3d	rs72552297
GWAS Ctlg	rs72552297

Max Magnitude

3

aka c.28_31delAACA (p.Asn10Metfs)

ClinVar
Risk	Rs72552297(-;-)
Alt	Rs72552297(-;-)
Reference	Rs72552297(AAAC;AAAC)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	OTC
CLNDBN	not provided
Reversed	0
HGVS	NC_000023.10:g.38211977_38211980delAACA
CLNSRC	ClinVar
CLNACC	RCV000083390.1,