rs28940286

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

66092566

Gene

ASL

is a	snp
is	mentioned by
dbSNP	rs28940286
dbSNP (classic)	rs28940286
ClinGen	rs28940286
ebi	rs28940286
HLI	rs28940286
Exac	rs28940286
Gnomad	rs28940286
Varsome	rs28940286
LitVar	rs28940286
Map	rs28940286
PheGenI	rs28940286
Biobank	rs28940286
1000 genomes	rs28940286
hgdp	rs28940286
ensembl	rs28940286
geneview	rs28940286
scholar	rs28940286
google	rs28940286
pharmgkb	rs28940286
gwascentral	rs28940286
openSNP	rs28940286
23andMe	rs28940286
SNPshot	rs28940286
SNPdbe	rs28940286
MSV3d	rs28940286
GWAS Ctlg	rs28940286

Max Magnitude

8

c.1153C>T, p.Arg385Cys or R385C

OMIM	608310
Desc	ARGININOSUCCINIC ACIDURIA
Variant	0004
Related	also

ClinVar
Risk	Rs28940286(T;T)
Alt	Rs28940286(T;T)
Reference	Rs28940286(C;C)
Significance	Other
Disease	Argininosuccinate lyase deficiency
Variation	info
Gene	ASL
CLNDBN	Argininosuccinate lyase deficiency
Reversed	0
HGVS	NC_000007.13:g.65557553C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002502.5,