Variant (rsID / SNP)
rs139560004
rs139560004 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCDC39, TTC14. Location: chromosome 3, position 180,334,356. 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
- 3:180334356
- Cytoband
- 3q26.33
- HGVS
- NM_181426.2(CCDC39):c.2534T>C (p.Ile845Thr)
- Allele change
- Silent
Associated conditions / phenotypes
Primary ciliary dyskinesia|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.