rs796051932

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;TGGCACTGACCCGAGACTCTGAGCG)	3	Unaffected carrier of one bad argininosuccinate lyase allele
(TGGCACTGACCCGAGACTCTGAGCG;TGGCACTGACCCGAGACTCTGAGCG)	8	Argininosuccinate lyase deficiency

Reference

GRCh38.p2 38.2/146

Chromosome

7

Position

66086776

Gene

ASL

is a	snp
is	mentioned by
dbSNP	rs796051932
dbSNP (classic)	rs796051932
ClinGen	rs796051932
ebi	rs796051932
HLI	rs796051932
Exac	rs796051932
Gnomad	rs796051932
Varsome	rs796051932
LitVar	rs796051932
Map	rs796051932
PheGenI	rs796051932
Biobank	rs796051932
1000 genomes	rs796051932
hgdp	rs796051932
ensembl	rs796051932
geneview	rs796051932
scholar	rs796051932
google	rs796051932
pharmgkb	rs796051932
gwascentral	rs796051932
openSNP	rs796051932
23andMe	rs796051932
SNPshot	rs796051932
SNPdbe	rs796051932
MSV3d	rs796051932
GWAS Ctlg	rs796051932

Max Magnitude

8

c.533_557dup25, p.Leu187Glyfs

ClinVar
Risk	rs796051932(CGTGGCACTGACCCGAGACTCTGAG;CGTGGCACTGACCCGAGACTCTGAG)
Alt	rs796051932(CGTGGCACTGACCCGAGACTCTGAG;CGTGGCACTGACCCGAGACTCTGAG)
Reference	Rs796051932(-;-)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	ASL
CLNDBN	not provided
Reversed	0
HGVS	NC_000007.13:g.65551739_65551763dup25
CLNSRC
CLNACC	RCV000185779.1,