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Gene entry

SACS

sacsin molecular chaperone

Chromosome
13
Cytoband
13q12.12
Variants (rsID)
72

SACS is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 13 (region 13q12.12). Its official name is “sacsin molecular chaperone”. The reference table lists 72 variants (rsID) for this gene.

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Clinically classified variants

41 reference-table entries with clinical significance.

  • rs11839380Benignsingle nucleotide variantSpastic paraplegia|Charlevoix-Saguenay spastic ataxia|Hereditary spastic paraplegia
  • rs17325713Benignsingle nucleotide variantSpastic paraplegia|Charlevoix-Saguenay spastic ataxia|Hereditary spastic paraplegia
  • rs2031640Benignsingle nucleotide variantCharlevoix-Saguenay spastic ataxia|Spastic paraplegia|Hereditary spastic paraplegia
  • rs3829352Benignsingle nucleotide variantSevere autosomal recessive muscular dystrophy of childhood - North African type|Limb-Girdle Muscular Dystrophy, Recessive|Charlevoix-Saguenay spastic ataxia|Sarcoglycanopathy
  • rs41315020Benignsingle nucleotide variantCharlevoix-Saguenay spastic ataxia|Spastic paraplegia
  • rs4143768Benignsingle nucleotide variantCharlevoix-Saguenay spastic ataxia|Spastic paraplegia|Hereditary spastic paraplegia
  • rs61742500Benignsingle nucleotide variantSpastic paraplegia|Charlevoix-Saguenay spastic ataxia|Hereditary spastic paraplegia
  • rs61742502Benignsingle nucleotide variantSpastic paraplegia|Charlevoix-Saguenay spastic ataxia|Hereditary spastic paraplegia
  • rs78239814Benignsingle nucleotide variantSpastic paraplegia|Charlevoix-Saguenay spastic ataxia
  • rs111540787Conflicting interpretationssingle nucleotide variantCharlevoix-Saguenay spastic ataxia|Spastic paraplegia|Hereditary spastic paraplegia
  • rs111920492Conflicting interpretationssingle nucleotide variantSpastic paraplegia|Charlevoix-Saguenay spastic ataxia|Hereditary spastic paraplegia
  • rs112630127Conflicting interpretationssingle nucleotide variantSpastic paraplegia|Charlevoix-Saguenay spastic ataxia|Hereditary spastic paraplegia
  • rs116791509Conflicting interpretationssingle nucleotide variantSpastic paraplegia|Charlevoix-Saguenay spastic ataxia|Hereditary spastic paraplegia
  • rs137856939Conflicting interpretationssingle nucleotide variantCharlevoix-Saguenay spastic ataxia|Spastic paraplegia|Hereditary spastic paraplegia
  • rs139670073Conflicting interpretationssingle nucleotide variantCharlevoix-Saguenay spastic ataxia|Spastic paraplegia
  • rs140551762Conflicting interpretationssingle nucleotide variantCharlevoix-Saguenay spastic ataxia|Spastic paraplegia|Hereditary spastic paraplegia
  • rs143433500Conflicting interpretationssingle nucleotide variantCharlevoix-Saguenay spastic ataxia|Spastic paraplegia
  • rs146722795Conflicting interpretationssingle nucleotide variantCharlevoix-Saguenay spastic ataxia|Spastic paraplegia|Hereditary spastic paraplegia
  • rs147099630Conflicting interpretationssingle nucleotide variantAbnormality of brain morphology|Spastic paraplegia|Charlevoix-Saguenay spastic ataxia|Hereditary spastic paraplegia
  • rs147317123Conflicting interpretationssingle nucleotide variantCharlevoix-Saguenay spastic ataxia|Spastic paraplegia
  • rs148878361Conflicting interpretationssingle nucleotide variantCharlevoix-Saguenay spastic ataxia|Spastic paraplegia|Hereditary spastic paraplegia
  • rs186436335Conflicting interpretationssingle nucleotide variantSpastic paraplegia|Charlevoix-Saguenay spastic ataxia|Hereditary spastic paraplegia
  • rs200453385Conflicting interpretationssingle nucleotide variantSpastic paraplegia|Charlevoix-Saguenay spastic ataxia|Hereditary spastic paraplegia
  • rs201294520Conflicting interpretationssingle nucleotide variantCharlevoix-Saguenay spastic ataxia|Spastic paraplegia|Hereditary spastic paraplegia
  • rs34382952Conflicting interpretationssingle nucleotide variantHereditary spastic paraplegia|Charlevoix-Saguenay spastic ataxia|Spastic paraplegia
  • rs35256065Conflicting interpretationssingle nucleotide variantCharlevoix-Saguenay spastic ataxia|Spastic paraplegia
  • rs35799469Conflicting interpretationssingle nucleotide variantCharlevoix-Saguenay spastic ataxia|Spastic paraplegia|Hereditary spastic paraplegia
  • rs35865691Conflicting interpretationssingle nucleotide variantCharlevoix-Saguenay spastic ataxia|Spastic paraplegia|Hereditary spastic paraplegia
  • rs36061856Conflicting interpretationssingle nucleotide variantCharlevoix-Saguenay spastic ataxia|Spastic paraplegia|Hereditary spastic paraplegia
  • rs61729954Conflicting interpretationssingle nucleotide variantHereditary spastic paraplegia|Charlevoix-Saguenay spastic ataxia|Spastic paraplegia
  • rs76872266Conflicting interpretationssingle nucleotide variantCharlevoix-Saguenay spastic ataxia|Spastic paraplegia|Hereditary spastic paraplegia
  • rs4770433Likely benignsingle nucleotide variantLimb-Girdle Muscular Dystrophy, Recessive|Charlevoix-Saguenay spastic ataxia|Severe autosomal recessive muscular dystrophy of childhood - North African type
  • rs202199411Pathogenicsingle nucleotide variantCharlevoix-Saguenay spastic ataxia|Spastic paraplegia
  • rs281865117PathogenicDeletionCharlevoix-Saguenay spastic ataxia|Spastic paraplegia|Hereditary spastic paraplegia
  • rs281865118Pathogenicsingle nucleotide variantCharlevoix-Saguenay spastic ataxia|Hereditary spastic paraplegia|Spastic paraplegia
  • rs281865120Pathogenicsingle nucleotide variantCharlevoix-Saguenay spastic ataxia|Spastic paraplegia
  • rs752059006Pathogenicsingle nucleotide variantAbnormality of brain morphology|Charlevoix-Saguenay spastic ataxia|Hereditary spastic paraplegia|Spastic paraplegia
  • rs140678034Uncertain significancesingle nucleotide variantCharlevoix-Saguenay spastic ataxia
  • rs182864646Uncertain significancesingle nucleotide variantSpastic paraplegia|Charlevoix-Saguenay spastic ataxia
  • rs201977288Uncertain significancesingle nucleotide variantSpastic paraplegia|Charlevoix-Saguenay spastic ataxia
  • rs281865119Uncertain significancesingle nucleotide variantCharlevoix-Saguenay spastic ataxia|Spastic paraplegia

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.