NM_001206927.2(DNAH8):c.10773C>G (p.Phe3591Leu) AND Primary ciliary dyskinesia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 4, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001478058.14
Allele description [Variation Report for NM_001206927.2(DNAH8):c.10773C>G (p.Phe3591Leu)]
NM_001206927.2(DNAH8):c.10773C>G (p.Phe3591Leu)
Condition(s)
- Name:
- Primary ciliary dyskinesia
- Synonyms:
- Ciliary dyskinesia
- Identifiers:
- MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265
-
nsv952978 AND (alive[prop]) (0)
Gene
-
E3 ubiquitin-protein ligase ARIH2 isoform X1 [Rattus norvegicus]
E3 ubiquitin-protein ligase ARIH2 isoform X1 [Rattus norvegicus]gi|564365498|ref|XP_006243847.1|Protein
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See more...Assertion and evidence details
Last Updated: Nov 10, 2024