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Gene entry

ASPM

assembly factor for spindle microtubules

Chromosome
1
Cytoband
1q31.3
Variants (rsID)
83

ASPM is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1q31.3). Its official name is “assembly factor for spindle microtubules”. The reference table lists 83 variants (rsID) for this gene.

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Clinically classified variants

78 reference-table entries with clinical significance.

  • rs10922162Benignsingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs111487086Benignsingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs112230218Benignsingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs112647911Benignsingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs113325473Benignsingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs113611857Benignsingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs114695225Benignsingle nucleotide variant
  • rs115891952Benignsingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs138558822Benignsingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs139367209Benignsingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs139927527Benignsingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs140150599Benignsingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs141108591Benignsingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs141532484Benignsingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs143294539Benignsingle nucleotide variant
  • rs150125249Benignsingle nucleotide variantMicrocephaly 5, primary, autosomal recessive|Intellectual disability
  • rs201066146Benignsingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs33987824Benignsingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs36004306Benignsingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs41299587Benignsingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs41299623Benignsingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs41310927Benignsingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs61995747Benignsingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs62624965Benignsingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs6677082Benignsingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs77191836Benignsingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs78315399Benignsingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs112113370Conflicting interpretationssingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs113777932Conflicting interpretationssingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs118010078Conflicting interpretationssingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs12025066Conflicting interpretationssingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs138138436Conflicting interpretationssingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs140248383Conflicting interpretationssingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs143733126Conflicting interpretationssingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs143822761Conflicting interpretationssingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs144049904Conflicting interpretationssingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs144969324Conflicting interpretationssingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs146561469Conflicting interpretationssingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs146858888Conflicting interpretationssingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs147100928Conflicting interpretationssingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs147160053Conflicting interpretationssingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs149228705Conflicting interpretationssingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs149859034Conflicting interpretationssingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs150327858Conflicting interpretationssingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs150642468Conflicting interpretationssingle nucleotide variant
  • rs151050191Conflicting interpretationssingle nucleotide variantMicrocephaly 5, primary, autosomal recessive|Inborn genetic diseases
  • rs151142538Conflicting interpretationssingle nucleotide variant
  • rs193251130Conflicting interpretationssingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs199422163Conflicting interpretationsDuplicationMicrocephaly 5, primary, autosomal recessive
  • rs200848981Conflicting interpretationssingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs201050851Conflicting interpretationssingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs552158003Conflicting interpretationssingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs563858170Conflicting interpretationssingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs77736715Conflicting interpretationssingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs886043529Conflicting interpretationssingle nucleotide variant
  • rs111299108Likely benignsingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs137852995Pathogenicsingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs137852996Pathogenicsingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs137852997Pathogenicsingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs140602858Pathogenicsingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs199422138PathogenicDeletionMicrocephaly 5, primary, autosomal recessive
  • rs199422147PathogenicMicrosatelliteMicrocephaly 5, primary, autosomal recessive|Abnormality of the nervous system
  • rs199422159Pathogenicsingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs199422161Pathogenicsingle nucleotide variantMicrocephaly 5, primary, autosomal recessive|Autosomal recessive primary microcephaly|Microcephaly
  • rs199422165Pathogenicsingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs199422173PathogenicDeletionMicrocephaly 5, primary, autosomal recessive|Microcephaly 1, primary, autosomal recessive
  • rs199422184PathogenicDeletionMicrocephaly 5, primary, autosomal recessive
  • rs199422185Pathogenicsingle nucleotide variantMicrocephaly 5, primary, autosomal recessive|See cases
  • rs199422189Pathogenicsingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs199422194Pathogenicsingle nucleotide variantMicrocephaly 5, primary, autosomal recessive|See cases
  • rs199422195Pathogenicsingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs587783240PathogenicMicrosatelliteMicrocephaly 5, primary, autosomal recessive
  • rs587783280PathogenicMicrosatelliteMicrocephaly 5, primary, autosomal recessive
  • rs587783283PathogenicDeletionMicrocephaly 5, primary, autosomal recessive
  • rs140119882Uncertain significancesingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs181039922Uncertain significancesingle nucleotide variantMicrocephaly 5, primary, autosomal recessive
  • rs199874115Uncertain significancesingle nucleotide variantMicrocephaly 5, primary, autosomal recessive|Intellectual disability
  • rs79899243Uncertain significancesingle nucleotide variantMicrocephaly 5, primary, autosomal recessive

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.