NM_031427.4(DNAL1):c.*1573G>T AND Primary ciliary dyskinesia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000353777.1
Allele description
NM_031427.4(DNAL1):c.*1573G>T
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 18, 2020