NM_001369.3(DNAH5):c.5425G>A (p.Ala1809Thr) AND Primary ciliary dyskinesia
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Jan 16, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002348104.6
Allele description [Variation Report for NM_001369.3(DNAH5):c.5425G>A (p.Ala1809Thr)]
NM_001369.3(DNAH5):c.5425G>A (p.Ala1809Thr)
Condition(s)
- Name:
- Primary ciliary dyskinesia
- Synonyms:
- Ciliary dyskinesia
- Identifiers:
- MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265
-
Ostreococcus tauri Isocitrate dehydrogenase NADP-dependent (OT_ostta13g02940), p...
Ostreococcus tauri Isocitrate dehydrogenase NADP-dependent (OT_ostta13g02940), partial mRNAgi|1275575815|ref|XM_003082729.2|Nucleotide
-
wolframin [Rattus norvegicus]
wolframin [Rattus norvegicus]gi|13929176|ref|NP_114011.1|Protein
-
RecName: Full=Protocadherin beta-1; Short=PCDH-beta-1; Flags: Precursor
RecName: Full=Protocadherin beta-1; Short=PCDH-beta-1; Flags: Precursorgi|205371811|sp|Q9Y5F3.2|PCDB1_HUMAProtein
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Last Updated: Sep 16, 2024