rs751590073

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	8	Argininosuccinate lyase deficiency
(A;G)	3	Unaffected carrier of one bad argininosuccinate lyase allele
(G;G)	0	common in clinvar

Reference

GRCh38.p2 38.2/144

Chromosome

7

Position

66086764

Gene

ASL

is a	snp
is	mentioned by
dbSNP	rs751590073
dbSNP (classic)	rs751590073
ClinGen	rs751590073
ebi	rs751590073
HLI	rs751590073
Exac	rs751590073
Gnomad	rs751590073
Varsome	rs751590073
LitVar	rs751590073
Map	rs751590073
PheGenI	rs751590073
Biobank	rs751590073
1000 genomes	rs751590073
hgdp	rs751590073
ensembl	rs751590073
geneview	rs751590073
scholar	rs751590073
google	rs751590073
pharmgkb	rs751590073
gwascentral	rs751590073
openSNP	rs751590073
23andMe	rs751590073
SNPshot	rs751590073
SNPdbe	rs751590073
MSV3d	rs751590073
GWAS Ctlg	rs751590073

Max Magnitude

8

c.545G>A, p.Arg182Gln or R182Q

ClinVar
Risk	Rs751590073(A;A)
Alt	Rs751590073(A;A)
Reference	Rs751590073(G;G)
Significance	Pathogenic
Disease	Argininosuccinate lyase deficiency
Variation	info
Gene	ASL
CLNDBN	Argininosuccinate lyase deficiency
Reversed	0
HGVS	NC_000007.13:g.65551751G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000454306.1,