NM_012144.4(DNAI1):c.1291C>G (p.His431Asp) AND Primary ciliary dyskinesia
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Jun 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000321889.7
Allele description [Variation Report for NM_012144.4(DNAI1):c.1291C>G (p.His431Asp)]
NM_012144.4(DNAI1):c.1291C>G (p.His431Asp)
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: Mar 16, 2024