Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

CCDC40

coiled-coil domain 40 molecular ruler complex subunit

Chromosome
17
Cytoband
17q25.3
Variants (rsID)
24

CCDC40 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17q25.3). Its official name is “coiled-coil domain 40 molecular ruler complex subunit”. The reference table lists 24 variants (rsID) for this gene.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Clinically classified variants

14 reference-table entries with clinical significance.

  • rs117203086Benignsingle nucleotide variantPrimary ciliary dyskinesia|Primary ciliary dyskinesia 15
  • rs118143944Benignsingle nucleotide variantPrimary ciliary dyskinesia|Primary ciliary dyskinesia 15
  • rs145595957Benignsingle nucleotide variantPrimary ciliary dyskinesia|Primary ciliary dyskinesia 15
  • rs151335066Benignsingle nucleotide variant
  • rs59978698Benignsingle nucleotide variantPrimary ciliary dyskinesia|Primary ciliary dyskinesia 15
  • rs61734951Benignsingle nucleotide variantPrimary ciliary dyskinesia|Primary ciliary dyskinesia 15
  • rs61739354Benignsingle nucleotide variantPrimary ciliary dyskinesia|Primary ciliary dyskinesia 15
  • rs61998241Benignsingle nucleotide variantPrimary ciliary dyskinesia|Primary ciliary dyskinesia 15
  • rs62000409Benignsingle nucleotide variantPrimary ciliary dyskinesia|Primary ciliary dyskinesia 15
  • rs115850223Conflicting interpretationssingle nucleotide variantPrimary ciliary dyskinesia|Primary ciliary dyskinesia 15
  • rs117419007Conflicting interpretationssingle nucleotide variantPrimary ciliary dyskinesia|Primary ciliary dyskinesia 15
  • rs201042940Conflicting interpretationssingle nucleotide variantPrimary ciliary dyskinesia|Primary ciliary dyskinesia 15|Male infertility
  • rs202075842Conflicting interpretationssingle nucleotide variantPrimary ciliary dyskinesia|Primary ciliary dyskinesia 15
  • rs369089505Conflicting interpretationssingle nucleotide variantPrimary ciliary dyskinesia|Primary ciliary dyskinesia 15

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.