rs28941473

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 38.1/141

Chromosome

7

Position

66086751

Gene

ASL

is a	snp
is	mentioned by
dbSNP	rs28941473
dbSNP (classic)	rs28941473
ClinGen	rs28941473
ebi	rs28941473
HLI	rs28941473
Exac	rs28941473
Gnomad	rs28941473
Varsome	rs28941473
LitVar	rs28941473
Map	rs28941473
PheGenI	rs28941473
Biobank	rs28941473
1000 genomes	rs28941473
hgdp	rs28941473
ensembl	rs28941473
geneview	rs28941473
scholar	rs28941473
google	rs28941473
pharmgkb	rs28941473
gwascentral	rs28941473
openSNP	rs28941473
23andMe	rs28941473
SNPshot	rs28941473
SNPdbe	rs28941473
MSV3d	rs28941473
GWAS Ctlg	rs28941473

Max Magnitude

8

c.532G>A, p.Val178Met or V178M

OMIM	608310
Desc	ARGININOSUCCINIC ACIDURIA
Variant	0005
Related	also

ClinVar
Risk	Rs28941473(A;A)
Alt	Rs28941473(A;A)
Reference	Rs28941473(G;G)
Significance	Pathogenic
Disease	Argininosuccinate lyase deficiency
Variation	info
Gene	ASL
CLNDBN	Argininosuccinate lyase deficiency
Reversed	0
HGVS	NC_000007.13:g.65551738G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002503.3,