Variant (rsID / SNP)
rs769223754
rs769223754 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCDC39. Location: chromosome 3, position 180,359,781. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
CCDC39Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:180359781
- Cytoband
- 3q26.33
- HGVS
- NM_181426.2(CCDC39):c.1874G>T (p.Ser625Ile)
- Allele change
- Missense_S625I
Associated conditions / phenotypes
Primary ciliary dyskinesia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.