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Gene entry

RSPH4A

radial spoke head component 4A

Chromosome
6
Cytoband
6q22.1
Variants (rsID)
20

RSPH4A is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 6 (region 6q22.1). Its official name is “radial spoke head component 4A”. The reference table lists 20 variants (rsID) for this gene.

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Clinically classified variants

16 reference-table entries with clinical significance.

  • rs112350099Benignsingle nucleotide variantPrimary ciliary dyskinesia|Primary ciliary dyskinesia 11
  • rs117169123Benignsingle nucleotide variantPrimary ciliary dyskinesia|Primary ciliary dyskinesia 11
  • rs41289942Benignsingle nucleotide variantPrimary ciliary dyskinesia|Primary ciliary dyskinesia 11
  • rs575857124Benignsingle nucleotide variantPrimary ciliary dyskinesia 11
  • rs6927567Benignsingle nucleotide variantPrimary ciliary dyskinesia|Primary ciliary dyskinesia 11
  • rs73765819Benignsingle nucleotide variantPrimary ciliary dyskinesia|Primary ciliary dyskinesia 11
  • rs9488991Benignsingle nucleotide variantPrimary ciliary dyskinesia|Primary ciliary dyskinesia 11
  • rs140660854Conflicting interpretationssingle nucleotide variantPrimary ciliary dyskinesia 11|Primary ciliary dyskinesia
  • rs146142715Conflicting interpretationssingle nucleotide variantPrimary ciliary dyskinesia|Primary ciliary dyskinesia 11
  • rs147003118Conflicting interpretationssingle nucleotide variantPrimary ciliary dyskinesia|Primary ciliary dyskinesia 11
  • rs183372450Conflicting interpretationssingle nucleotide variantPrimary ciliary dyskinesia 11|Primary ciliary dyskinesia
  • rs201826366Conflicting interpretationssingle nucleotide variantPrimary ciliary dyskinesia|Primary ciliary dyskinesia 11
  • rs79327004Conflicting interpretationssingle nucleotide variantPrimary ciliary dyskinesia
  • rs118204041Pathogenicsingle nucleotide variantPrimary ciliary dyskinesia 11|Primary ciliary dyskinesia
  • rs118204042Pathogenicsingle nucleotide variantPrimary ciliary dyskinesia 11|Primary ciliary dyskinesia
  • rs140079844Uncertain significancesingle nucleotide variantPrimary ciliary dyskinesia|Primary ciliary dyskinesia 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.