rs28940585

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Likely miscall in DNA chip data (e.g. Ancestry or 23andMe); otherwise, unaffected carrier of one bad argininosuccinate lyase allele
(T;T)	8	Argininosuccinate lyase deficiency

Reference

GRCh38 38.1/141

Chromosome

7

Position

66082443

Gene

ASL

is a	snp
is	mentioned by
dbSNP	rs28940585
dbSNP (classic)	rs28940585
ClinGen	rs28940585
ebi	rs28940585
HLI	rs28940585
Exac	rs28940585
Gnomad	rs28940585
Varsome	rs28940585
LitVar	rs28940585
Map	rs28940585
PheGenI	rs28940585
Biobank	rs28940585
1000 genomes	rs28940585
hgdp	rs28940585
ensembl	rs28940585
geneview	rs28940585
scholar	rs28940585
google	rs28940585
pharmgkb	rs28940585
gwascentral	rs28940585
openSNP	rs28940585
23andMe	rs28940585
SNPshot	rs28940585
SNPdbe	rs28940585
MSV3d	rs28940585
GWAS Ctlg	rs28940585

Merged from

Rs6519457

Max Magnitude

8

c.283C>T, p.Arg95Cys or R95C

OMIM	608310
Desc	ARGININOSUCCINIC ACIDURIA
Variant	0001
Related	also

ClinVar
Risk	Rs28940585(T;T)
Alt	Rs28940585(T;T)
Reference	Rs28940585(C;C)
Significance	Pathogenic
Disease	Argininosuccinate lyase deficiency
Variation	info
Gene	ASL
CLNDBN	Argininosuccinate lyase deficiency
Reversed	0
HGVS	NC_000007.13:g.65547430C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002499.2,