NM_001369.3(DNAH5):c.3666C>T (p.Asn1222=) AND Primary ciliary dyskinesia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001419249.8
Allele description [Variation Report for NM_001369.3(DNAH5):c.3666C>T (p.Asn1222=)]
NM_001369.3(DNAH5):c.3666C>T (p.Asn1222=)
Condition(s)
- Name:
- Primary ciliary dyskinesia
- Synonyms:
- Ciliary dyskinesia
- Identifiers:
- MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265
-
R.norvegicus RPL19 gene
R.norvegicus RPL19 genegi|732917|emb|X82202.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024