rs373697663

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	8	Argininosuccinate lyase deficiency
(A;G)	3	Unaffected carrier of an argininosuccinate lyase mutation
(G;G)	0	common/normal

Reference

GRCh38.p2 38.2/147

Chromosome

7

Position

66086797

Gene

ASL

is a	snp
is	mentioned by
dbSNP	rs373697663
dbSNP (classic)	rs373697663
ClinGen	rs373697663
ebi	rs373697663
HLI	rs373697663
Exac	rs373697663
Gnomad	rs373697663
Varsome	rs373697663
LitVar	rs373697663
Map	rs373697663
PheGenI	rs373697663
Biobank	rs373697663
1000 genomes	rs373697663
hgdp	rs373697663
ensembl	rs373697663
geneview	rs373697663
scholar	rs373697663
google	rs373697663
pharmgkb	rs373697663
gwascentral	rs373697663
openSNP	rs373697663
23andMe	rs373697663
SNPshot	rs373697663
SNPdbe	rs373697663
MSV3d	rs373697663
GWAS Ctlg	rs373697663

Max Magnitude

8

c.578G>A, p.Arg193Gln or R193Q

pathogenic for argininosuccinate lyase deficiency, according to [PMID 12384776]

ClinVar
Risk	Rs373697663(A;A)
Alt	Rs373697663(A;A)
Reference	Rs373697663(G;G)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	ASL
CLNDBN	not provided
Reversed	0
HGVS	NC_000007.13:g.65551784G>A
CLNSRC
CLNACC	RCV000413440.1,