NM_001369.3(DNAH5):c.5866dup (p.Thr1956fs) AND Primary ciliary dyskinesia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003651306.2
Allele description [Variation Report for NM_001369.3(DNAH5):c.5866dup (p.Thr1956fs)]
NM_001369.3(DNAH5):c.5866dup (p.Thr1956fs)
Condition(s)
- Name:
- Primary ciliary dyskinesia
- Synonyms:
- Ciliary dyskinesia
- Identifiers:
- MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265
-
Targeted Temperature Management - StatPearls
Targeted Temperature Management - StatPearls
-
LOC114320047 [Camellia sinensis]
LOC114320047 [Camellia sinensis]Gene ID:114320047Gene
-
LOC114263875 [Camellia sinensis]
LOC114263875 [Camellia sinensis]Gene ID:114263875Gene
-
HSD17B12 [Pelecanus crispus]
HSD17B12 [Pelecanus crispus]Gene ID:104030016Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024