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rs367543006

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
Position66082934
GeneASL
is asnp
is mentioned by
dbSNPrs367543006
ebirs367543006
HLIrs367543006
Exacrs367543006
Varsomers367543006
Maprs367543006
PheGenIrs367543006
hapmaprs367543006
1000 genomesrs367543006
hgdprs367543006
ensemblrs367543006
gopubmedrs367543006
geneviewrs367543006
scholarrs367543006
googlers367543006
pharmgkbrs367543006
gwascentralrs367543006
openSNPrs367543006
23andMers367543006
23andMe allrs367543006
SNP Nexus

SNPshotrs367543006
SNPdbers367543006
MSV3drs367543006
GWAS Ctlgrs367543006
Max Magnitude8

c.346C>T, p.Gln116Ter or Q116X

ClinVar
Risk rs367543006(T;T)
Alt rs367543006(T;T)
Reference rs367543006(C;C)
Significance Pathogenic
Disease Argininosuccinate lyase deficiency
Variation info
Gene ASL
CLNDBN Argininosuccinate lyase deficiency
Reversed 0
HGVS NC_000007.13:g.65547921C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020416.1,


[PMID 21290785] Argininosuccinate Lyase Deficiency