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rs28941472

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 Unaffected carrier of one bad argininosuccinate lyase allele
(G;G) 8 Argininosuccinate lyase deficiency
ReferenceGRCh38 38.1/141
Chromosome7
Position66089114
GeneASL
is asnp
is mentioned by
dbSNPrs28941472
ebirs28941472
HLIrs28941472
Exacrs28941472
Varsomers28941472
Maprs28941472
PheGenIrs28941472
hapmaprs28941472
1000 genomesrs28941472
hgdprs28941472
ensemblrs28941472
gopubmedrs28941472
geneviewrs28941472
scholarrs28941472
googlers28941472
pharmgkbrs28941472
gwascentralrs28941472
openSNPrs28941472
23andMers28941472
23andMe allrs28941472
SNP Nexus

SNPshotrs28941472
SNPdbers28941472
MSV3drs28941472
GWAS Ctlgrs28941472
Max Magnitude8

c.857A>G, p.Gln286Arg or Q286R

OMIM608310
DescARGININOSUCCINIC ACIDURIA
Variant0002
Relatedalso


ClinVar
Risk rs28941472(G;G)
Alt rs28941472(G;G)
Reference rs28941472(A;A)
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.65554101A>G
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000002500.2, RCV000078017.6,