NM_001369.3(DNAH5):c.9231G>C (p.Arg3077=) AND Primary ciliary dyskinesia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002199871.7
Allele description [Variation Report for NM_001369.3(DNAH5):c.9231G>C (p.Arg3077=)]
NM_001369.3(DNAH5):c.9231G>C (p.Arg3077=)
Condition(s)
- Name:
- Primary ciliary dyskinesia
- Synonyms:
- Ciliary dyskinesia
- Identifiers:
- MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265
-
Homo sapiens gon-4 like (GON4L), transcript variant 2, mRNA
Homo sapiens gon-4 like (GON4L), transcript variant 2, mRNAgi|1677537399|ref|NM_032292.6|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024