rs28940287

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

66092078

Gene

ASL

is a	snp
is	mentioned by
dbSNP	rs28940287
dbSNP (classic)	rs28940287
ClinGen	rs28940287
ebi	rs28940287
HLI	rs28940287
Exac	rs28940287
Gnomad	rs28940287
Varsome	rs28940287
LitVar	rs28940287
Map	rs28940287
PheGenI	rs28940287
Biobank	rs28940287
1000 genomes	rs28940287
hgdp	rs28940287
ensembl	rs28940287
geneview	rs28940287
scholar	rs28940287
google	rs28940287
pharmgkb	rs28940287
gwascentral	rs28940287
openSNP	rs28940287
23andMe	rs28940287
SNPshot	rs28940287
SNPdbe	rs28940287
MSV3d	rs28940287
GWAS Ctlg	rs28940287

Max Magnitude

8

c.1135C>T, p.Arg379Cys or R379C

23andMe name as used in at least some (but apparently not all) results of theirs: i5003494

OMIM	608310
Desc	ARGININOSUCCINIC ACIDURIA
Variant	0006
Related	also

OMIM	608310
Desc
Variant	0004
Related	also

ClinVar
Risk	rs28940287(G;G) Rs28940287(T;T)
Alt	rs28940287(G;G) Rs28940287(T;T)
Reference	Rs28940287(C;C)
Significance	Pathogenic
Disease	Argininosuccinate lyase deficiency not provided
Variation	info
Gene	ASL
CLNDBN	Argininosuccinate lyase deficiency not provided
Reversed	0
HGVS	NC_000007.13:g.65557065C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002504.2, RCV000185769.2,