rs606231163

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;C)	3	carrier of a neurodegenerative disorder (ARSACS) mutation
(C;C)	6	neurodegenerative disorder (ARSACS)

Reference

GRCh38.p2 38.2/144

Chromosome

13

Position

23339842

Gene

SACS

is a	snp
is	mentioned by
dbSNP	rs606231163
dbSNP (classic)	rs606231163
ClinGen	rs606231163
ebi	rs606231163
HLI	rs606231163
Exac	rs606231163
Gnomad	rs606231163
Varsome	rs606231163
LitVar	rs606231163
Map	rs606231163
PheGenI	rs606231163
Biobank	rs606231163
1000 genomes	rs606231163
hgdp	rs606231163
ensembl	rs606231163
geneview	rs606231163
scholar	rs606231163
google	rs606231163
pharmgkb	rs606231163
gwascentral	rs606231163
openSNP	rs606231163
23andMe	rs606231163
SNPshot	rs606231163
SNPdbe	rs606231163
MSV3d	rs606231163
GWAS Ctlg	rs606231163

Max Magnitude

6

c.4033dupC (p.Gln1345Profs)

ClinVar
Risk	Rs606231163(C;C)
Alt	Rs606231163(C;C)
Reference	Rs606231163(-;-)
Significance	Pathogenic
Disease	Spastic ataxia Charlevoix-Saguenay type
Variation	info
Gene	SACS
CLNDBN	Spastic ataxia Charlevoix-Saguenay type
Reversed	1
HGVS	NC_000013.10:g.23913982dupG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005853.5,