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rs28941473

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome7
Position66086751
GeneASL
is asnp
is mentioned by
dbSNPrs28941473
ebirs28941473
HLIrs28941473
Exacrs28941473
Varsomers28941473
Maprs28941473
PheGenIrs28941473
hapmaprs28941473
1000 genomesrs28941473
hgdprs28941473
ensemblrs28941473
gopubmedrs28941473
geneviewrs28941473
scholarrs28941473
googlers28941473
pharmgkbrs28941473
gwascentralrs28941473
openSNPrs28941473
23andMers28941473
23andMe allrs28941473
SNP Nexus

SNPshotrs28941473
SNPdbers28941473
MSV3drs28941473
GWAS Ctlgrs28941473
Max Magnitude8

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

OMIM608310
DescARGININOSUCCINIC ACIDURIA
Variant0005
Relatedalso
ClinVar
Risk rs28941473(A;A)
Alt rs28941473(A;A)
Reference rs28941473(G;G)
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.65551738G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002503.2, RCV000185762.1,