rs769506424

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

66089282

Gene

ASL

is a	snp
is	mentioned by
dbSNP	rs769506424
dbSNP (classic)	rs769506424
ClinGen	rs769506424
ebi	rs769506424
HLI	rs769506424
Exac	rs769506424
Gnomad	rs769506424
Varsome	rs769506424
LitVar	rs769506424
Map	rs769506424
PheGenI	rs769506424
Biobank	rs769506424
1000 genomes	rs769506424
hgdp	rs769506424
ensembl	rs769506424
geneview	rs769506424
scholar	rs769506424
google	rs769506424
pharmgkb	rs769506424
gwascentral	rs769506424
openSNP	rs769506424
23andMe	rs769506424
SNPshot	rs769506424
SNPdbe	rs769506424
MSV3d	rs769506424
GWAS Ctlg	rs769506424

Max Magnitude

8

c.925G>A, p.Gly309Arg or G309R

ClinVar
Risk	Rs769506424(A;A)
Alt	Rs769506424(A;A)
Reference	Rs769506424(G;G)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	ASL
CLNDBN	not provided
Reversed	0
HGVS	NC_000007.13:g.65554269G>A
CLNSRC
CLNACC	RCV000185767.1,