NM_012144.4(DNAI1):c.341A>G (p.Asp114Gly) AND Primary ciliary dyskinesia
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Aug 24, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000801336.4
Allele description [Variation Report for NM_012144.4(DNAI1):c.341A>G (p.Asp114Gly)]
NM_012144.4(DNAI1):c.341A>G (p.Asp114Gly)
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: Apr 15, 2024