Variant (rsID / SNP)

rs551191744

rs551191744 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCDC39. Location: chromosome 3, position 180,365,034. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CCDC39Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: Deletion
Chromosome / position: 3:180365034
Cytoband: 3q26.33
HGVS: NM_181426.2(CCDC39):c.1363-3del

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.