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Gene entry

RSPH1

radial spoke head component 1

Chromosome
21
Cytoband
21q22.3
Variants (rsID)
9

RSPH1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 21 (region 21q22.3). Its official name is “radial spoke head component 1”. The reference table lists 9 variants (rsID) for this gene.

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Clinically classified variants

5 reference-table entries with clinical significance.

  • rs117385282Benignsingle nucleotide variantPrimary ciliary dyskinesia|Primary ciliary dyskinesia 24
  • rs138007679Benignsingle nucleotide variantPrimary ciliary dyskinesia
  • rs2839536Benignsingle nucleotide variantPrimary ciliary dyskinesia|Primary ciliary dyskinesia 24
  • rs138320978Pathogenicsingle nucleotide variantPrimary ciliary dyskinesia 24|Kartagener syndrome|Primary ciliary dyskinesia|See cases
  • rs151107532Pathogenicsingle nucleotide variantPrimary ciliary dyskinesia 24|Kartagener syndrome|Primary ciliary dyskinesia

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.