Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs79353057

CCDC39

rs79353057 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCDC39. Location: chromosome 3, position 180,349,359. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

CCDC39Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:180349359
Cytoband
3q26.33
HGVS
NM_181426.2(CCDC39):c.1896A>G (p.Leu632=)
Allele change
Synonymous_L632L

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.