NM_001369.3(DNAH5):c.11853del (p.Lys3951fs) AND Primary ciliary dyskinesia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 17, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000792582.5
Allele description [Variation Report for NM_001369.3(DNAH5):c.11853del (p.Lys3951fs)]
NM_001369.3(DNAH5):c.11853del (p.Lys3951fs)
Condition(s)
- Name:
- Primary ciliary dyskinesia
- Synonyms:
- Ciliary dyskinesia
- Identifiers:
- MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265
-
Ogg1 8-oxoguanine DNA glycosylase [Rattus norvegicus]
Ogg1 8-oxoguanine DNA glycosylase [Rattus norvegicus]Gene ID:81528Gene
-
81528[uid] AND (alive[prop]) (1)
Gene
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Last Updated: Sep 16, 2024