NM_012144.4(DNAI1):c.1877C>T (p.Ala626Val) AND Primary ciliary dyskinesia
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Jan 22, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000864823.10
Allele description [Variation Report for NM_012144.4(DNAI1):c.1877C>T (p.Ala626Val)]
NM_012144.4(DNAI1):c.1877C>T (p.Ala626Val)
Condition(s)
- Name:
- Primary ciliary dyskinesia
- Synonyms:
- Ciliary dyskinesia
- Identifiers:
- MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265
-
transposase [Himar1-delivery and mutagenesis vector pFNLTP16 H3]
transposase [Himar1-delivery and mutagenesis vector pFNLTP16 H3]gi|81175356|gb|ABB59013.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024