NM_021147.5(CCNO):c.519C>G (p.Asp173Glu) AND Primary ciliary dyskinesia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 7, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002780464.4
Allele description [Variation Report for NM_021147.5(CCNO):c.519C>G (p.Asp173Glu)]
NM_021147.5(CCNO):c.519C>G (p.Asp173Glu)
Condition(s)
- Name:
- Primary ciliary dyskinesia
- Synonyms:
- Ciliary dyskinesia
- Identifiers:
- MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265
Assertion and evidence details
Last Updated: Sep 29, 2024