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rs398123126

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
Position66086763
GeneASL
is asnp
is mentioned by
dbSNPrs398123126
ebirs398123126
HLIrs398123126
Exacrs398123126
Varsomers398123126
Maprs398123126
PheGenIrs398123126
hapmaprs398123126
1000 genomesrs398123126
hgdprs398123126
ensemblrs398123126
gopubmedrs398123126
geneviewrs398123126
scholarrs398123126
googlers398123126
pharmgkbrs398123126
gwascentralrs398123126
openSNPrs398123126
23andMers398123126
23andMe allrs398123126
SNP Nexus

SNPshotrs398123126
SNPdbers398123126
MSV3drs398123126
GWAS Ctlgrs398123126
Max Magnitude8

c.544C>T, p.Arg182Ter or R182X

ClinVar
Risk rs398123126(T;T)
Alt rs398123126(T;T)
Reference rs398123126(C;C)
Significance Pathogenic
Disease not provided Argininosuccinate lyase deficiency
Variation info
Gene ASL
CLNDBN not provided Argininosuccinate lyase deficiency
Reversed 0
HGVS NC_000007.13:g.65551750C>T
CLNSRC HGMD
CLNACC RCV000078012.4, RCV000194332.1,