NM_012144.4(DNAI1):c.1265T>C (p.Phe422Ser) AND Primary ciliary dyskinesia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 12, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004379126.1
Allele description [Variation Report for NM_012144.4(DNAI1):c.1265T>C (p.Phe422Ser)]
NM_012144.4(DNAI1):c.1265T>C (p.Phe422Ser)
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: Sep 16, 2024