NM_023036.6(DNAI2):c.922A>G (p.Ile308Val) AND Primary ciliary dyskinesia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 24, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002006743.5
Allele description [Variation Report for NM_023036.6(DNAI2):c.922A>G (p.Ile308Val)]
NM_023036.6(DNAI2):c.922A>G (p.Ile308Val)
Condition(s)
- Name:
- Primary ciliary dyskinesia
- Synonyms:
- Ciliary dyskinesia
- Identifiers:
- MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265
-
GSTUM_00001845001 [Tuber melanosporum]
GSTUM_00001845001 [Tuber melanosporum]Gene ID:9188283Gene
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Last Updated: Sep 16, 2024