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rs145138923

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
Position66081825
GeneASL
is asnp
is mentioned by
dbSNPrs145138923
ebirs145138923
HLIrs145138923
Exacrs145138923
Varsomers145138923
Maprs145138923
PheGenIrs145138923
hapmaprs145138923
1000 genomesrs145138923
hgdprs145138923
ensemblrs145138923
gopubmedrs145138923
geneviewrs145138923
scholarrs145138923
googlers145138923
pharmgkbrs145138923
gwascentralrs145138923
openSNPrs145138923
23andMers145138923
23andMe allrs145138923
SNP Nexus

SNPshotrs145138923
SNPdbers145138923
MSV3drs145138923
GWAS Ctlgrs145138923
Max Magnitude8

c.35G>A, p.Arg12Gln or R12Q

ClinVar
Risk rs145138923(A;A)
Alt rs145138923(A;A)
Reference rs145138923(G;G)
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.65546812G>A
CLNSRC HGMD
CLNACC RCV000078010.6, RCV000193312.1,