NM_003611.3(OFD1):c.2235C>T (p.Ser745=) AND Primary ciliary dyskinesia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 30, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004029335.1
Allele description [Variation Report for NM_003611.3(OFD1):c.2235C>T (p.Ser745=)]
NM_003611.3(OFD1):c.2235C>T (p.Ser745=)
Condition(s)
- Name:
- Primary ciliary dyskinesia
- Synonyms:
- Ciliary dyskinesia
- Identifiers:
- MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265
Assertion and evidence details
Last Updated: Jul 23, 2024