Variant (rsID / SNP)

rs115952495

rs115952495 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCDC39. Location: chromosome 3, position 180,379,773. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CCDC39Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:180379773
Cytoband: 3q26.33
HGVS: NM_181426.2(CCDC39):c.233G>A (p.Arg78His)
Allele change: Missense_R78H

Associated conditions / phenotypes

Primary ciliary dyskinesia|Primary ciliary dyskinesia 14

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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