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Gene entry

SPG11

SPG11 vesicle trafficking associated, spatacsin

Chromosome
15
Cytoband
15q21.1
Variants (rsID)
51

SPG11 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 15 (region 15q21.1). Its official name is “SPG11 vesicle trafficking associated, spatacsin”. The reference table lists 51 variants (rsID) for this gene.

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Clinically classified variants

36 reference-table entries with clinical significance.

  • rs116807842Benignsingle nucleotide variantHereditary spastic paraplegia 11|Hereditary spastic paraplegia
  • rs36014111Benignsingle nucleotide variantHereditary spastic paraplegia 11|Hereditary spastic paraplegia
  • rs3759871Benignsingle nucleotide variantHereditary spastic paraplegia 11|Hereditary spastic paraplegia
  • rs75430389Benignsingle nucleotide variantHereditary spastic paraplegia 11|Hereditary spastic paraplegia
  • rs77697105Benignsingle nucleotide variantHereditary spastic paraplegia 11|Hereditary spastic paraplegia
  • rs78183930Benignsingle nucleotide variantHereditary spastic paraplegia 11|Hereditary spastic paraplegia
  • rs80338868Benignsingle nucleotide variantHereditary spastic paraplegia 11|Hereditary spastic paraplegia
  • rs111347025Conflicting interpretationssingle nucleotide variantHereditary spastic paraplegia 11|Amyotrophic lateral sclerosis|Hereditary spastic paraplegia
  • rs139334167Conflicting interpretationssingle nucleotide variantHereditary spastic paraplegia 11|Hereditary spastic paraplegia
  • rs140824939Conflicting interpretationssingle nucleotide variantHereditary spastic paraplegia 11|Hereditary spastic paraplegia
  • rs150761878Conflicting interpretationssingle nucleotide variantHereditary spastic paraplegia 11|Hereditary spastic paraplegia
  • rs151317653Conflicting interpretationssingle nucleotide variantHereditary spastic paraplegia 11
  • rs185665930Conflicting interpretationssingle nucleotide variantHereditary spastic paraplegia 11
  • rs200220848Conflicting interpretationssingle nucleotide variantHereditary spastic paraplegia 11
  • rs544136842Conflicting interpretationssingle nucleotide variantHereditary spastic paraplegia 11
  • rs76116949Conflicting interpretationssingle nucleotide variantHereditary spastic paraplegia 11|Amyotrophic lateral sclerosis|Hereditary spastic paraplegia
  • rs777849932Conflicting interpretationssingle nucleotide variantHereditary spastic paraplegia 11
  • rs79708848Conflicting interpretationssingle nucleotide variantHereditary spastic paraplegia 11|Amyotrophic lateral sclerosis|Hereditary spastic paraplegia
  • rs118203963Pathogenicsingle nucleotide variantHereditary spastic paraplegia 11|Charcot-Marie-Tooth disease axonal type 2X|Charcot-Marie-Tooth disease axonal type 2X|Hereditary spastic paraplegia 11
  • rs141848292Pathogenicsingle nucleotide variantHereditary spastic paraplegia 11
  • rs199588440Pathogenicsingle nucleotide variantHereditary spastic paraplegia 11
  • rs200793464Pathogenicsingle nucleotide variantHereditary spastic paraplegia 11|Amyotrophic lateral sclerosis type 5
  • rs312262719PathogenicDeletionHereditary spastic paraplegia 11
  • rs312262720PathogenicDeletionHereditary spastic paraplegia 11|Amyotrophic lateral sclerosis type 5|Hereditary spastic paraplegia|Inborn genetic diseases|Amyotrophic lateral sclerosis type 5|Hereditary spastic paraplegia 11|Abnormal central motor function|Charcot-Marie-Tooth disease axonal type 2X
  • rs312262723Pathogenicsingle nucleotide variantHereditary spastic paraplegia 11
  • rs312262738PathogenicDuplicationHereditary spastic paraplegia 11
  • rs312262740Pathogenicsingle nucleotide variantHereditary spastic paraplegia 11|Hereditary spastic paraplegia
  • rs312262781PathogenicMicrosatelliteHereditary spastic paraplegia 11
  • rs312262782PathogenicDeletionHereditary spastic paraplegia 11
  • rs140164220Uncertain significancesingle nucleotide variantHereditary spastic paraplegia 11
  • rs141035224Uncertain significancesingle nucleotide variantHereditary spastic paraplegia 11
  • rs145195036Uncertain significancesingle nucleotide variantHereditary spastic paraplegia 11
  • rs145643238Uncertain significancesingle nucleotide variantHereditary spastic paraplegia 11|Intellectual disability
  • rs149003934Uncertain significancesingle nucleotide variantHereditary spastic paraplegia 11
  • rs199920965Uncertain significancesingle nucleotide variantHereditary spastic paraplegia 11
  • rs80338869Not classifiedsingle nucleotide variantHereditary spastic paraplegia 11

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.