rs142637046

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/142

Chromosome

7

Position

66083175

Gene

ASL

is a	snp
is	mentioned by
dbSNP	rs142637046
dbSNP (classic)	rs142637046
ClinGen	rs142637046
ebi	rs142637046
HLI	rs142637046
Exac	rs142637046
Gnomad	rs142637046
Varsome	rs142637046
LitVar	rs142637046
Map	rs142637046
PheGenI	rs142637046
Biobank	rs142637046
1000 genomes	rs142637046
hgdp	rs142637046
ensembl	rs142637046
geneview	rs142637046
scholar	rs142637046
google	rs142637046
pharmgkb	rs142637046
gwascentral	rs142637046
openSNP	rs142637046
23andMe	rs142637046
SNPshot	rs142637046
SNPdbe	rs142637046
MSV3d	rs142637046
GWAS Ctlg	rs142637046

Max Magnitude

8

c.446+1G>A

note: in [PMID 12384776], this mutation is referred to as "IVS5+1G-->A"

ClinVar
Risk	Rs142637046(A;A)
Alt	Rs142637046(A;A)
Reference	Rs142637046(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.65548162G>A
CLNSRC	HGMD
CLNACC	RCV000078011.6, RCV000409952.1,