NM_001277115.2(DNAH11):c.12296C>T (p.Pro4099Leu) AND Primary ciliary dyskinesia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 17, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003002004.2
Allele description [Variation Report for NM_001277115.2(DNAH11):c.12296C>T (p.Pro4099Leu)]
NM_001277115.2(DNAH11):c.12296C>T (p.Pro4099Leu)
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: Jul 15, 2024