Have questions? Visit https://www.reddit.com/r/SNPedia

rs143793815

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 3 Unaffected carrier of an argininosuccinate lyase mutation
(T;T) 8 Argininosuccinate lyase deficiency
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position66083120
GeneASL
is asnp
is mentioned by
dbSNPrs143793815
ebirs143793815
HLIrs143793815
Exacrs143793815
Varsomers143793815
Maprs143793815
PheGenIrs143793815
hapmaprs143793815
1000 genomesrs143793815
hgdprs143793815
ensemblrs143793815
gopubmedrs143793815
geneviewrs143793815
scholarrs143793815
googlers143793815
pharmgkbrs143793815
gwascentralrs143793815
openSNPrs143793815
23andMers143793815
23andMe allrs143793815
SNP Nexus

SNPshotrs143793815
SNPdbers143793815
MSV3drs143793815
GWAS Ctlgrs143793815
Max Magnitude8
c.392C>T, p.Thr131Met or T131M

Considered pathogenic for argininosuccinate lyase deficiency, according to [PMID 12384776], however, it is listed in ClinVar as of uncertain pathogenicity, presumably due to having a (slightly) higher population frequency than expected for a pathogenic allele.

ClinVar
Risk rs143793815(T;T)
Alt rs143793815(T;T)
Reference rs143793815(C;C)
Significance Unknown
Disease not specified
Variation info
Gene ASL
CLNDBN not specified
Reversed 0
HGVS NC_000007.13:g.65548107C>T
CLNSRC
CLNACC RCV000185776.1,