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Gene entry

FBXL4

F-box and leucine rich repeat protein 4

Chromosome
6
Cytoband
6q16.1-q16.2
Variants (rsID)
10

FBXL4 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 6 (region 6q16.1-q16.2). Its official name is “F-box and leucine rich repeat protein 4”. The reference table lists 10 variants (rsID) for this gene.

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Clinically classified variants

3 reference-table entries with clinical significance.

  • rs200440128Pathogenicsingle nucleotide variantMitochondrial DNA depletion syndrome 13|Inborn genetic diseases|Neurodevelopmental delay
  • rs201149065Uncertain significancesingle nucleotide variantMitochondrial DNA depletion syndrome 13
  • rs201858974Uncertain significancesingle nucleotide variantMitochondrial DNA depletion syndrome 13

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.