rs398123126

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

7

Position

66086763

Gene

ASL

is a	snp
is	mentioned by
dbSNP	rs398123126
dbSNP (classic)	rs398123126
ClinGen	rs398123126
ebi	rs398123126
HLI	rs398123126
Exac	rs398123126
Gnomad	rs398123126
Varsome	rs398123126
LitVar	rs398123126
Map	rs398123126
PheGenI	rs398123126
Biobank	rs398123126
1000 genomes	rs398123126
hgdp	rs398123126
ensembl	rs398123126
geneview	rs398123126
scholar	rs398123126
google	rs398123126
pharmgkb	rs398123126
gwascentral	rs398123126
openSNP	rs398123126
23andMe	rs398123126
SNPshot	rs398123126
SNPdbe	rs398123126
MSV3d	rs398123126
GWAS Ctlg	rs398123126

Max Magnitude

8

aka c.544C>T, p.Arg182Ter or R182X

23andMe name: i6007689

ClinVar
Risk	Rs398123126(T;T)
Alt	Rs398123126(T;T)
Reference	Rs398123126(C;C)
Significance	Pathogenic
Disease	not provided Argininosuccinate lyase deficiency
Variation	info
Gene	ASL
CLNDBN	not provided Argininosuccinate lyase deficiency
Reversed	0
HGVS	NC_000007.13:g.65551750C>T
CLNSRC	HGMD
CLNACC	RCV000078012.4, RCV000194332.1,