NM_001369.3(DNAH5):c.8214C>T (p.Asp2738=) AND Primary ciliary dyskinesia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 16, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003538986.2
Allele description [Variation Report for NM_001369.3(DNAH5):c.8214C>T (p.Asp2738=)]
NM_001369.3(DNAH5):c.8214C>T (p.Asp2738=)
Condition(s)
- Name:
- Primary ciliary dyskinesia
- Synonyms:
- Ciliary dyskinesia
- Identifiers:
- MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265
-
Polr3g polymerase (RNA) III (DNA directed) polypeptide G [Mus musculus]
Polr3g polymerase (RNA) III (DNA directed) polypeptide G [Mus musculus]Gene ID:67486Gene
-
67486[uid] AND (alive[prop]) (1)
Gene
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Last Updated: Sep 29, 2024