rs796051933

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;GTCATCTCTACGC)	3	Unaffected carrier of one bad argininosuccinate lyase allele
(GCGTCATCTCTAC;GCGTCATCTCTAC)	0	common in clinvar
(GTCATCTCTACGC;GTCATCTCTACGC)	0	common in clinvar

Make rs796051933(-;-)

Reference

GRCh38.p2 38.2/146

Chromosome

7

Position

66089678

Gene

ASL

is a	snp
is	mentioned by
dbSNP	rs796051933
dbSNP (classic)	rs796051933
ClinGen	rs796051933
ebi	rs796051933
HLI	rs796051933
Exac	rs796051933
Gnomad	rs796051933
Varsome	rs796051933
LitVar	rs796051933
Map	rs796051933
PheGenI	rs796051933
Biobank	rs796051933
1000 genomes	rs796051933
hgdp	rs796051933
ensembl	rs796051933
geneview	rs796051933
scholar	rs796051933
google	rs796051933
pharmgkb	rs796051933
gwascentral	rs796051933
openSNP	rs796051933
23andMe	rs796051933
SNPshot	rs796051933
SNPdbe	rs796051933
MSV3d	rs796051933
GWAS Ctlg	rs796051933

Max Magnitude

3

c.1045_1057delGTCATCTCTACGC or p.Val349Cysfs

ClinVar
Risk	rs796051933(-;-) Rs796051933(GCGTCATCTCTAC;GCGTCATCTCTAC)
Alt	rs796051933(-;-) Rs796051933(GCGTCATCTCTAC;GCGTCATCTCTAC)
Reference	Rs796051933(GTCATCTCTACGC;GTCATCTCTACGC)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	ASL
CLNDBN	not provided
Reversed	0
HGVS	NC_000007.13:g.65554665_65554677delGTCATCTCTACGC
CLNSRC
CLNACC	RCV000185780.2,