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rs142637046

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 8 Argininosuccinate lyase deficiency
(A;G) 3 Unaffected carrier of one bad argininosuccinate lyase allele
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/142
Chromosome7
Position66083175
GeneASL
is asnp
is mentioned by
dbSNPrs142637046
ebirs142637046
HLIrs142637046
Exacrs142637046
Varsomers142637046
Maprs142637046
PheGenIrs142637046
hapmaprs142637046
1000 genomesrs142637046
hgdprs142637046
ensemblrs142637046
gopubmedrs142637046
geneviewrs142637046
scholarrs142637046
googlers142637046
pharmgkbrs142637046
gwascentralrs142637046
openSNPrs142637046
23andMers142637046
23andMe allrs142637046
SNP Nexus

SNPshotrs142637046
SNPdbers142637046
MSV3drs142637046
GWAS Ctlgrs142637046
Max Magnitude8

c.446+1G>A

note: in [PMID 12384776], this mutation is referred to as "IVS5+1G-->A"

ClinVar
Risk rs142637046(A;A)
Alt rs142637046(A;A)
Reference rs142637046(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene ASL
CLNDBN not provided
Reversed 0
HGVS NC_000007.13:g.65548162G>A
CLNSRC HGMD
CLNACC RCV000078011.5,