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Gene entry

AFG3L2

AFG3 like matrix AAA peptidase subunit 2

Chromosome
18
Cytoband
18p11.21
Variants (rsID)
17

AFG3L2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 18 (region 18p11.21). Its official name is “AFG3 like matrix AAA peptidase subunit 2”. The reference table lists 17 variants (rsID) for this gene.

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Clinically classified variants

8 reference-table entries with clinical significance.

  • rs8091858Benignsingle nucleotide variantSpinocerebellar ataxia type 28
  • rs117182113Conflicting interpretationssingle nucleotide variantSpinocerebellar ataxia type 28|Spastic ataxia 5
  • rs139469785Conflicting interpretationssingle nucleotide variantSpinocerebellar ataxia type 28|Spastic ataxia 5
  • rs758470020Conflicting interpretationssingle nucleotide variantSpinocerebellar ataxia type 28
  • rs151344514Pathogenicsingle nucleotide variantSpinocerebellar ataxia type 28
  • rs151344523Pathogenicsingle nucleotide variantSpinocerebellar ataxia type 28
  • rs387906889Pathogenicsingle nucleotide variantSpastic ataxia 5
  • rs375098002Uncertain significancesingle nucleotide variantSpinocerebellar ataxia type 28|Spastic ataxia 5|Spinocerebellar ataxia type 28

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.