rs796051931

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 38.2/146

Chromosome

7

Position

66083165

Gene

ASL

is a	snp
is	mentioned by
dbSNP	rs796051931
dbSNP (classic)	rs796051931
ClinGen	rs796051931
ebi	rs796051931
HLI	rs796051931
Exac	rs796051931
Gnomad	rs796051931
Varsome	rs796051931
LitVar	rs796051931
Map	rs796051931
PheGenI	rs796051931
Biobank	rs796051931
1000 genomes	rs796051931
hgdp	rs796051931
ensembl	rs796051931
geneview	rs796051931
scholar	rs796051931
google	rs796051931
pharmgkb	rs796051931
gwascentral	rs796051931
openSNP	rs796051931
23andMe	rs796051931
SNPshot	rs796051931
SNPdbe	rs796051931
MSV3d	rs796051931
GWAS Ctlg	rs796051931

Max Magnitude

8

c.437G>A, p.Arg146Gln or R146Q

ClinVar
Risk	Rs796051931(A;A)
Alt	Rs796051931(A;A)
Reference	Rs796051931(G;G)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	ASL
CLNDBN	not provided
Reversed	0
HGVS	NC_000007.13:g.65548152G>A
CLNSRC
CLNACC	RCV000185778.1,