Variant (rsID / SNP)

rs115545935

rs115545935 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCDC39. Location: chromosome 3, position 180,364,961. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CCDC39Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:180364961
Cytoband: 3q26.33
HGVS: NM_181426.2(CCDC39):c.1433A>G (p.Gln478Arg)
Allele change: Missense_Q478R

Associated conditions / phenotypes

Primary ciliary dyskinesia 14|Primary ciliary dyskinesia

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.