NM_001034853.2(RPGR):c.2923dup (p.Glu975fs) AND Primary ciliary dyskinesia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002801633.3
Allele description [Variation Report for NM_001034853.2(RPGR):c.2923dup (p.Glu975fs)]
NM_001034853.2(RPGR):c.2923dup (p.Glu975fs)
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