rs770167670

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p2 38.2/144

Chromosome

7

Position

66092606

Gene

ASL

is a	snp
is	mentioned by
dbSNP	rs770167670
dbSNP (classic)	rs770167670
ClinGen	rs770167670
ebi	rs770167670
HLI	rs770167670
Exac	rs770167670
Gnomad	rs770167670
Varsome	rs770167670
LitVar	rs770167670
Map	rs770167670
PheGenI	rs770167670
Biobank	rs770167670
1000 genomes	rs770167670
hgdp	rs770167670
ensembl	rs770167670
geneview	rs770167670
scholar	rs770167670
google	rs770167670
pharmgkb	rs770167670
gwascentral	rs770167670
openSNP	rs770167670
23andMe	rs770167670
SNPshot	rs770167670
SNPdbe	rs770167670
MSV3d	rs770167670
GWAS Ctlg	rs770167670

Max Magnitude

8

c.1193C>A, p.Ala398Asp or A398D

ClinVar
Risk	Rs770167670(A;A)
Alt	Rs770167670(A;A)
Reference	Rs770167670(C;C)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	ASL
CLNDBN	not provided
Reversed	0
HGVS	NC_000007.13:g.65557593C>A
CLNSRC
CLNACC	RCV000185770.1,