NM_001369.3(DNAH5):c.9534C>A (p.Tyr3178Ter) AND Primary ciliary dyskinesia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 7, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000807854.4
Allele description [Variation Report for NM_001369.3(DNAH5):c.9534C>A (p.Tyr3178Ter)]
NM_001369.3(DNAH5):c.9534C>A (p.Tyr3178Ter)
Condition(s)
- Name:
- Primary ciliary dyskinesia
- Synonyms:
- Ciliary dyskinesia
- Identifiers:
- MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265
-
Homo sapiens chemokine-like factor super family member 8 (CKLFSF8) mRNA, complet...
Homo sapiens chemokine-like factor super family member 8 (CKLFSF8) mRNA, complete cdsgi|25167350|gb|AF474370.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024