rs367543006

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

66082934

Gene

ASL

is a	snp
is	mentioned by
dbSNP	rs367543006
dbSNP (classic)	rs367543006
ClinGen	rs367543006
ebi	rs367543006
HLI	rs367543006
Exac	rs367543006
Gnomad	rs367543006
Varsome	rs367543006
LitVar	rs367543006
Map	rs367543006
PheGenI	rs367543006
Biobank	rs367543006
1000 genomes	rs367543006
hgdp	rs367543006
ensembl	rs367543006
geneview	rs367543006
scholar	rs367543006
google	rs367543006
pharmgkb	rs367543006
gwascentral	rs367543006
openSNP	rs367543006
23andMe	rs367543006
SNPshot	rs367543006
SNPdbe	rs367543006
MSV3d	rs367543006
GWAS Ctlg	rs367543006

Max Magnitude

8

aka c.346C>T, p.Gln116Ter or Q116X

23andMe name: i700184

ClinVar
Risk	Rs367543006(T;T)
Alt	Rs367543006(T;T)
Reference	Rs367543006(C;C)
Significance	Pathogenic
Disease	Argininosuccinate lyase deficiency
Variation	info
Gene	ASL
CLNDBN	Argininosuccinate lyase deficiency
Reversed	0
HGVS	NC_000007.13:g.65547921C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020416.1,

[PMID 21290785] Argininosuccinate Lyase Deficiency