NM_001369.3(DNAH5):c.8898G>T (p.Thr2966=) AND Primary ciliary dyskinesia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 15, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001478254.1
Allele description
NM_001369.3(DNAH5):c.8898G>T (p.Thr2966=)
Condition(s)
- Name:
- Primary ciliary dyskinesia (PCD)
- Synonyms:
- Polynesian bronchiectasis; Immotile cilia syndrome; Ciliary dyskinesia
- Identifiers:
- MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265
Assertion and evidence details
Last Updated: Apr 23, 2022