NM_001369.3(DNAH5):c.5882+13T>C AND Primary ciliary dyskinesia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003651710.2
Allele description [Variation Report for NM_001369.3(DNAH5):c.5882+13T>C]
NM_001369.3(DNAH5):c.5882+13T>C
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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RecName: Full=Hemoglobin subunit alpha; AltName: Full=Alpha-globin; AltName: Ful...
RecName: Full=Hemoglobin subunit alpha; AltName: Full=Alpha-globin; AltName: Full=Hemoglobin alpha chain; Contains: RecName: Full=Hemopressingi|52000981|sp|P63112.2|HBA_PAPCYProtein
-
Taxonomy Links for GEO Profiles (Select 123232198) (1)
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Last Updated: Sep 29, 2024