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rs28940585

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
Position66082443
GeneASL
is asnp
is mentioned by
dbSNPrs28940585
ebirs28940585
HLIrs28940585
Exacrs28940585
Varsomers28940585
Maprs28940585
PheGenIrs28940585
hapmaprs28940585
1000 genomesrs28940585
hgdprs28940585
ensemblrs28940585
gopubmedrs28940585
geneviewrs28940585
scholarrs28940585
googlers28940585
pharmgkbrs28940585
gwascentralrs28940585
openSNPrs28940585
23andMers28940585
23andMe allrs28940585
SNP Nexus

SNPshotrs28940585
SNPdbers28940585
MSV3drs28940585
GWAS Ctlgrs28940585
Merged fromRs6519457
Max Magnitude8

c.283C>T, p.Arg95Cys or R95C

OMIM608310
DescARGININOSUCCINIC ACIDURIA
Variant0001
Relatedalso


ClinVar
Risk rs28940585(T;T)
Alt rs28940585(T;T)
Reference rs28940585(C;C)
Significance Pathogenic
Disease Argininosuccinate lyase deficiency
Variation info
Gene ASL
CLNDBN Argininosuccinate lyase deficiency
Reversed 0
HGVS NC_000007.13:g.65547430C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002499.2,