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Variant (rsID / SNP)

rs140505857

CCDC39

rs140505857 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCDC39. Location: chromosome 3, position 180,359,874. 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
3:180359874
Cytoband
3q26.33
HGVS
NM_181426.2(CCDC39):c.1781C>T (p.Thr594Ile)
Allele change
Missense_T594I

Associated conditions / phenotypes

Primary ciliary dyskinesia 14|Primary ciliary dyskinesia

Public references

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