NM_001033560.1(DNAAF4):c.165_167delTCCinsCT (p.Pro56Serfs) AND Ciliary dyskinesia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 10, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000460798.1
Allele description
NM_001033560.1(DNAAF4):c.165_167delTCCinsCT (p.Pro56Serfs)
Condition(s)
- Name:
- Ciliary dyskinesia (PCD)
- Synonyms:
- Primary ciliary dyskinesia
- Identifiers:
- MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265
Assertion and evidence details
Last Updated: Jul 21, 2018