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rs28940287

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
Position66092078
GeneASL
is asnp
is mentioned by
dbSNPrs28940287
ebirs28940287
HLIrs28940287
Exacrs28940287
Varsomers28940287
Maprs28940287
PheGenIrs28940287
hapmaprs28940287
1000 genomesrs28940287
hgdprs28940287
ensemblrs28940287
gopubmedrs28940287
geneviewrs28940287
scholarrs28940287
googlers28940287
pharmgkbrs28940287
gwascentralrs28940287
openSNPrs28940287
23andMers28940287
23andMe allrs28940287
SNP Nexus

SNPshotrs28940287
SNPdbers28940287
MSV3drs28940287
GWAS Ctlgrs28940287
Max Magnitude8

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

OMIM608310
DescARGININOSUCCINIC ACIDURIA
Variant0006
Relatedalso
Neighborrs28940286
Distance488
OMIM608310
Desc
Variant0004
Relatedalso
ClinVar
Risk rs28940287(G,T;G,T)
Alt rs28940287(G,T;G,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
CLNACC RCV000002504.2, RCV000185769.2,