{{Rsnum
|rsid=2031640
|Gene=SACS
|Chromosome=13
|position=23355916
|Orientation=plus
|ReferenceAllele=T
|MissenseAllele=A
|GMAF=0.0955
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene_s=SACS
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;T)
| geno3=(T;T)
| CEU | 79.6 | 20.4 | 0.0
| HCB | 77.4 | 21.2 | 1.5
| JPT | 77.0 | 22.1 | 0.9
| YRI | 100.0 | 0.0 | 0.0
| ASW | 98.2 | 1.8 | 0.0
| CHB | 77.4 | 21.2 | 1.5
| CHD | 78.9 | 19.3 | 1.8
| GIH | 79.2 | 18.8 | 2.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 81.0 | 19.0 | 0.0
| MKK | 96.8 | 3.2 | 0.0
| TSI | 75.5 | 23.5 | 1.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=2031640
|allele=T
|frequency=0.142
|uid=1103649171138
|type=heterozygous_SNP
|hugo=SACS
|ensembl gene=ENSG00000151835
|ensembl transcript=ENST00000382298
|sift=TOLERATED
|disease=Defects in SACS are the cause of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) (MIM:270550). ARSACS is an early onset neurodegenerative disease with high prevalence in the Charlevoix-Saguenay-Lac-Saint-Jean region of Quebec. It is characterized by absent sensory-nerve conduction, reduced motor-nerve velocity and hypermyelination of retinal-nerve fibers.
}}

{{GET Evidence
|gene=SACS
|aa_change=Asn232Lys
|aa_change_short=N232K
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2031640
|overall_frequency_n=928
|overall_frequency_d=10756
|overall_frequency=0.0862774
|n_genomes=5
|n_genomes_annotated=0
|n_haplomes=6
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.98
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=1
|autoscore=3
|webscore=N
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | Affy500k}}
{{on chip | HumanOmni1Quad}}