rs374304304

plus

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

Reference

GRCh38.p2 38.2/144

Chromosome

7

Position

66082440

Gene

ASL

is a	snp
is	mentioned by
dbSNP	rs374304304
dbSNP (classic)	rs374304304
ClinGen	rs374304304
ebi	rs374304304
HLI	rs374304304
Exac	rs374304304
Gnomad	rs374304304
Varsome	rs374304304
LitVar	rs374304304
Map	rs374304304
PheGenI	rs374304304
Biobank	rs374304304
1000 genomes	rs374304304
hgdp	rs374304304
ensembl	rs374304304
geneview	rs374304304
scholar	rs374304304
google	rs374304304
pharmgkb	rs374304304
gwascentral	rs374304304
openSNP	rs374304304
23andMe	rs374304304
SNPshot	rs374304304
SNPdbe	rs374304304
MSV3d	rs374304304
GWAS Ctlg	rs374304304

Max Magnitude

8

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	UniProtKB (protein)
CLNACC	RCV000078009.3, RCV000178026.1,