Have questions? Visit https://www.reddit.com/r/SNPedia

rs28940286

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome7
Position66092566
GeneASL
is asnp
is mentioned by
dbSNPrs28940286
ebirs28940286
HLIrs28940286
Exacrs28940286
Varsomers28940286
Maprs28940286
PheGenIrs28940286
hapmaprs28940286
1000 genomesrs28940286
hgdprs28940286
ensemblrs28940286
gopubmedrs28940286
geneviewrs28940286
scholarrs28940286
googlers28940286
pharmgkbrs28940286
gwascentralrs28940286
openSNPrs28940286
23andMers28940286
23andMe allrs28940286
SNP Nexus

SNPshotrs28940286
SNPdbers28940286
MSV3drs28940286
GWAS Ctlgrs28940286
Max Magnitude8

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

OMIM608310
DescARGININOSUCCINIC ACIDURIA
Variant0004
Relatedalso
Neighborrs28940287
Distance488
ClinVar
Risk rs28940286(T;T)
Alt rs28940286(T;T)
Reference rs28940286(C;C)
Significance Pathogenic
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
CLNACC RCV000002502.3,