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Variant (rsID / SNP)

rs201780665

CCDC39

rs201780665 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCDC39. Location: chromosome 3, position 180,359,860. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CCDC39Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:180359860
Cytoband
3q26.33
HGVS
NM_181426.2(CCDC39):c.1795C>T (p.Arg599Ter)
Allele change
Nonsense_R599X

Associated conditions / phenotypes

Primary ciliary dyskinesia|Ellis-van Creveld syndrome|Primary ciliary dyskinesia 14

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.