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rs374304304

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.p2 38.2/144
Chromosome7
Position66082440
GeneASL
is asnp
is mentioned by
dbSNPrs374304304
ebirs374304304
HLIrs374304304
Exacrs374304304
Varsomers374304304
Maprs374304304
PheGenIrs374304304
hapmaprs374304304
1000 genomesrs374304304
hgdprs374304304
ensemblrs374304304
gopubmedrs374304304
geneviewrs374304304
scholarrs374304304
googlers374304304
pharmgkbrs374304304
gwascentralrs374304304
openSNPrs374304304
23andMers374304304
23andMe allrs374304304
SNP Nexus

SNPshotrs374304304
SNPdbers374304304
MSV3drs374304304
GWAS Ctlgrs374304304
Max Magnitude8

c.280C>T, p.Arg94Cys and R94C; note that ClinVar shows conflicting interpretation of pathogenicity, but from the same source, with the more recent evaluation designating this mutation as pathogenic

ClinVar
Risk rs374304304(T;T)
Alt rs374304304(T;T)
Reference rs374304304(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.65547427C>T
CLNSRC
CLNACC RCV000078009.3, RCV000178026.1,