rs143793815

plus

Geno	Mag	Summary
(C;C)	0	common/normal
(C;T)	3	Unaffected carrier of an argininosuccinate lyase mutation
(T;T)	8	Argininosuccinate lyase deficiency

Reference

GRCh38.p2 38.2/147

Chromosome

7

Position

66083120

Gene

ASL

is a	snp
is	mentioned by
dbSNP	rs143793815
dbSNP (classic)	rs143793815
ClinGen	rs143793815
ebi	rs143793815
HLI	rs143793815
Exac	rs143793815
Gnomad	rs143793815
Varsome	rs143793815
LitVar	rs143793815
Map	rs143793815
PheGenI	rs143793815
Biobank	rs143793815
1000 genomes	rs143793815
hgdp	rs143793815
ensembl	rs143793815
geneview	rs143793815
scholar	rs143793815
google	rs143793815
pharmgkb	rs143793815
gwascentral	rs143793815
openSNP	rs143793815
23andMe	rs143793815
SNPshot	rs143793815
SNPdbe	rs143793815
MSV3d	rs143793815
GWAS Ctlg	rs143793815

Max Magnitude

8

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	Probable-non-pathogenic
Disease	not specified
Variation	info
Gene	ASL
CLNDBN	not specified
Reversed	0
HGVS	NC_000007.13:g.65548107C>T
CLNSRC
CLNACC	RCV000185776.2,