rs367543005

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

66089693

Gene

ASL

is a	snp
is	mentioned by
dbSNP	rs367543005
dbSNP (classic)	rs367543005
ClinGen	rs367543005
ebi	rs367543005
HLI	rs367543005
Exac	rs367543005
Gnomad	rs367543005
Varsome	rs367543005
LitVar	rs367543005
Map	rs367543005
PheGenI	rs367543005
Biobank	rs367543005
1000 genomes	rs367543005
hgdp	rs367543005
ensembl	rs367543005
geneview	rs367543005
scholar	rs367543005
google	rs367543005
pharmgkb	rs367543005
gwascentral	rs367543005
openSNP	rs367543005
23andMe	rs367543005
SNPshot	rs367543005
SNPdbe	rs367543005
MSV3d	rs367543005
GWAS Ctlg	rs367543005

Max Magnitude

8

aka c.1060C>T, p.Gln354Ter or Q354X

23andMe name: i6007710

ClinVar
Risk	Rs367543005(T;T)
Alt	Rs367543005(T;T)
Reference	Rs367543005(C;C)
Significance	Pathogenic
Disease	Argininosuccinate lyase deficiency not provided
Variation	info
Gene	ASL
CLNDBN	Argininosuccinate lyase deficiency not provided
Reversed	0
HGVS	NC_000007.13:g.65554680C>T
CLNSRC	HGMD
CLNACC	RCV000020415.3, RCV000078007.5,

[PMID 21290785] Argininosuccinate Lyase Deficiency