NM_001034853.2(RPGR):c.2742GGA[1] (p.Glu916del) AND Primary ciliary dyskinesia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002022510.8
Allele description [Variation Report for NM_001034853.2(RPGR):c.2742GGA[1] (p.Glu916del)]
NM_001034853.2(RPGR):c.2742GGA[1] (p.Glu916del)
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: Oct 8, 2024