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rs367543005

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
Position66089693
GeneASL
is asnp
is mentioned by
dbSNPrs367543005
ebirs367543005
HLIrs367543005
Exacrs367543005
Varsomers367543005
Maprs367543005
PheGenIrs367543005
hapmaprs367543005
1000 genomesrs367543005
hgdprs367543005
ensemblrs367543005
gopubmedrs367543005
geneviewrs367543005
scholarrs367543005
googlers367543005
pharmgkbrs367543005
gwascentralrs367543005
openSNPrs367543005
23andMers367543005
23andMe allrs367543005
SNP Nexus

SNPshotrs367543005
SNPdbers367543005
MSV3drs367543005
GWAS Ctlgrs367543005
Max Magnitude8

c.1060C>T, p.Gln354Ter or Q354X

ClinVar
Risk rs367543005(T;T)
Alt rs367543005(T;T)
Reference rs367543005(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.65554680C>T
CLNSRC HGMD
CLNACC RCV000020415.2, RCV000078007.4,


[PMID 21290785] Argininosuccinate Lyase Deficiency