NM_001277115.2(DNAH11):c.3164A>G (p.Tyr1055Cys) AND Primary ciliary dyskinesia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003653938.1
Allele description [Variation Report for NM_001277115.2(DNAH11):c.3164A>G (p.Tyr1055Cys)]
NM_001277115.2(DNAH11):c.3164A>G (p.Tyr1055Cys)
Condition(s)
- Name:
- Primary ciliary dyskinesia
- Synonyms:
- Ciliary dyskinesia
- Identifiers:
- MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265
-
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Last Updated: May 12, 2024