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Gene entry

SPG7

SPG7 matrix AAA peptidase subunit, paraplegin

Chromosome
16
Cytoband
16q24.3
Variants (rsID)
29

SPG7 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 16 (region 16q24.3). Its official name is “SPG7 matrix AAA peptidase subunit, paraplegin”. The reference table lists 29 variants (rsID) for this gene.

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Clinically classified variants

25 reference-table entries with clinical significance.

  • rs112379588Benignsingle nucleotide variantHereditary spastic paraplegia 7
  • rs11559075Benignsingle nucleotide variantHereditary spastic paraplegia 7|Hereditary spastic paraplegia
  • rs115661328Benignsingle nucleotide variantHereditary spastic paraplegia 7
  • rs12960Benignsingle nucleotide variantHereditary spastic paraplegia 7|Hereditary spastic paraplegia
  • rs2292954Benignsingle nucleotide variantHereditary spastic paraplegia 7|Hereditary spastic paraplegia
  • rs60488729Benignsingle nucleotide variantHereditary spastic paraplegia 7|Hereditary spastic paraplegia
  • rs61747711Benignsingle nucleotide variantHereditary spastic paraplegia 7|Hereditary spastic paraplegia
  • rs61747712Benignsingle nucleotide variantHereditary spastic paraplegia 7|Hereditary spastic paraplegia
  • rs79756036Benignsingle nucleotide variantHereditary spastic paraplegia 7|Hereditary spastic paraplegia
  • rs111475461Conflicting interpretationssingle nucleotide variantHereditary spastic paraplegia 7|Hereditary spastic paraplegia
  • rs114135540Conflicting interpretationssingle nucleotide variantHereditary spastic paraplegia 7|Hereditary spastic paraplegia
  • rs114255772Conflicting interpretationssingle nucleotide variantHereditary spastic paraplegia 7
  • rs115448299Conflicting interpretationssingle nucleotide variantHereditary spastic paraplegia 7
  • rs116319889Conflicting interpretationssingle nucleotide variantHereditary spastic paraplegia 7|Hereditary spastic paraplegia
  • rs141659620Conflicting interpretationssingle nucleotide variantHereditary spastic paraplegia 7|Cerebral palsy|Hereditary spastic paraplegia
  • rs148315471Conflicting interpretationssingle nucleotide variantHereditary spastic paraplegia 7|Hereditary spastic paraplegia
  • rs151249432Conflicting interpretationssingle nucleotide variantHereditary spastic paraplegia 7|Hereditary spastic paraplegia
  • rs61755320Conflicting interpretationssingle nucleotide variantHereditary spastic paraplegia 7|Spastic Paraplegia, Recessive|Hereditary spastic paraplegia|Inborn genetic diseases|Dysarthria|Spastic paraparesis|Cerebral cortical atrophy|Gait ataxia|Optic nerve hypoplasia|Intellectual disability|Spastic ataxia|Sensorimotor neuropathy
  • rs149797758Likely pathogenicsingle nucleotide variant
  • rs121918358Pathogenicsingle nucleotide variantHereditary spastic paraplegia 7|Proximal spinal muscular atrophy|Hereditary spastic paraplegia
  • rs369227537Pathogenicsingle nucleotide variantHereditary spastic paraplegia 7|Mitochondrial disease|Hereditary spastic paraplegia
  • rs562890289Pathogenicsingle nucleotide variantHereditary spastic paraplegia|Hereditary spastic paraplegia 7
  • rs864622094Pathogenicsingle nucleotide variantHereditary spastic paraplegia 7
  • rs191022979Uncertain significancesingle nucleotide variantHereditary spastic paraplegia 7
  • rs199804717Uncertain significancesingle nucleotide variant

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.