rs796051928

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p2 38.2/146

Chromosome

7

Position

66092814

Gene

ASL

is a	snp
is	mentioned by
dbSNP	rs796051928
dbSNP (classic)	rs796051928
ClinGen	rs796051928
ebi	rs796051928
HLI	rs796051928
Exac	rs796051928
Gnomad	rs796051928
Varsome	rs796051928
LitVar	rs796051928
Map	rs796051928
PheGenI	rs796051928
Biobank	rs796051928
1000 genomes	rs796051928
hgdp	rs796051928
ensembl	rs796051928
geneview	rs796051928
scholar	rs796051928
google	rs796051928
pharmgkb	rs796051928
gwascentral	rs796051928
openSNP	rs796051928
23andMe	rs796051928
SNPshot	rs796051928
SNPdbe	rs796051928
MSV3d	rs796051928
GWAS Ctlg	rs796051928

Max Magnitude

8

c.1297A>C, p.Ser433Arg or S433R

ClinVar
Risk	Rs796051928(C;C)
Alt	Rs796051928(C;C)
Reference	Rs796051928(A;A)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	ASL
CLNDBN	not provided
Reversed	0
HGVS	NC_000007.13:g.65557801A>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000185772.1,