NM_181426.2(CCDC39):c.1248A>G (p.Glu416=) AND Primary ciliary dyskinesia
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000353694.13
Allele description
NM_181426.2(CCDC39):c.1248A>G (p.Glu416=)
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 16, 2024