NM_001369.3(DNAH5):c.5206C>A (p.His1736Asn) AND Primary ciliary dyskinesia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003536081.2
Allele description [Variation Report for NM_001369.3(DNAH5):c.5206C>A (p.His1736Asn)]
NM_001369.3(DNAH5):c.5206C>A (p.His1736Asn)
Condition(s)
- Name:
- Primary ciliary dyskinesia
- Synonyms:
- Ciliary dyskinesia
- Identifiers:
- MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265
-
Mus musculus UBX domain protein 10, mRNA (cDNA clone MGC:32424 IMAGE:5041000), c...
Mus musculus UBX domain protein 10, mRNA (cDNA clone MGC:32424 IMAGE:5041000), complete cdsgi|20071528|gb|BC027099.1|Nucleotide
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OMIM Links for GEO Profiles (Select 98651882) (2)
OMIM
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Last Updated: Sep 29, 2024