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Variant (rsID / SNP)

rs139606873

CCNO

rs139606873 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCNO. Location: chromosome 5, position 54,529,218. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CCNOConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:54529218
Cytoband
5q11.2
HGVS
NM_021147.5(CCNO):c.134C>A (p.Pro45His)
Allele change
Missense_P45H

Associated conditions / phenotypes

Primary ciliary dyskinesia|Primary ciliary dyskinesia 29

Public references

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