Variant (rsID / SNP)

rs142265745

rs142265745 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCNO. Location: chromosome 5, position 54,529,245. Clinical significance in the table: Likely benign.

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Reference-table entries

CCNOLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:54529245
Cytoband: 5q11.2
HGVS: NM_021147.5(CCNO):c.107G>A (p.Arg36His)
Allele change: Missense_R36H

Associated conditions / phenotypes

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.