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Gene entry

CLPB

ClpB family mitochondrial disaggregase

Chromosome
11
Cytoband
11q13.4
Variants (rsID)
33

CLPB is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11q13.4). Its official name is “ClpB family mitochondrial disaggregase”. The reference table lists 33 variants (rsID) for this gene.

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Clinically classified variants

6 reference-table entries with clinical significance.

  • rs141383303Benignsingle nucleotide variant3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia
  • rs77345581Benignsingle nucleotide variant3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia
  • rs150343959Conflicting interpretationssingle nucleotide variant3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia
  • rs144078282Pathogenicsingle nucleotide variant3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia
  • rs200203460Pathogenicsingle nucleotide variant3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia
  • rs144942416Uncertain significancesingle nucleotide variant3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia

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.