rs28941472

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

7

Position

66089114

Gene

ASL

is a	snp
is	mentioned by
dbSNP	rs28941472
dbSNP (classic)	rs28941472
ClinGen	rs28941472
ebi	rs28941472
HLI	rs28941472
Exac	rs28941472
Gnomad	rs28941472
Varsome	rs28941472
LitVar	rs28941472
Map	rs28941472
PheGenI	rs28941472
Biobank	rs28941472
1000 genomes	rs28941472
hgdp	rs28941472
ensembl	rs28941472
geneview	rs28941472
scholar	rs28941472
google	rs28941472
pharmgkb	rs28941472
gwascentral	rs28941472
openSNP	rs28941472
23andMe	rs28941472
SNPshot	rs28941472
SNPdbe	rs28941472
MSV3d	rs28941472
GWAS Ctlg	rs28941472

Max Magnitude

8

c.857A>G, p.Gln286Arg or Q286R

OMIM	608310
Desc	ARGININOSUCCINIC ACIDURIA
Variant	0002
Related	also

ClinVar
Risk	Rs28941472(G;G)
Alt	Rs28941472(G;G)
Reference	Rs28941472(A;A)
Significance	Pathogenic
Disease	Argininosuccinate lyase deficiency not provided
Variation	info
Gene	ASL
CLNDBN	Argininosuccinate lyase deficiency not provided
Reversed	0
HGVS	NC_000007.13:g.65554101A>G
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002500.2, RCV000078017.7,