rs145138923

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/142

Chromosome

7

Position

66081825

Gene

ASL

is a	snp
is	mentioned by
dbSNP	rs145138923
dbSNP (classic)	rs145138923
ClinGen	rs145138923
ebi	rs145138923
HLI	rs145138923
Exac	rs145138923
Gnomad	rs145138923
Varsome	rs145138923
LitVar	rs145138923
Map	rs145138923
PheGenI	rs145138923
Biobank	rs145138923
1000 genomes	rs145138923
hgdp	rs145138923
ensembl	rs145138923
geneview	rs145138923
scholar	rs145138923
google	rs145138923
pharmgkb	rs145138923
gwascentral	rs145138923
openSNP	rs145138923
23andMe	rs145138923
SNPshot	rs145138923
SNPdbe	rs145138923
MSV3d	rs145138923
GWAS Ctlg	rs145138923

Max Magnitude

8

c.35G>A, p.Arg12Gln or R12Q

ClinVar
Risk	Rs145138923(A;A)
Alt	Rs145138923(A;A)
Reference	Rs145138923(G;G)
Significance	Other
Disease	not provided Argininosuccinate lyase deficiency
Variation	info
Gene	ASL
CLNDBN	not provided Argininosuccinate lyase deficiency
Reversed	0
HGVS	NC_000007.13:g.65546812G>A
CLNSRC	HGMD
CLNACC	RCV000078010.8, RCV000193312.2,