NM_001277115.2(DNAH11):c.594G>A (p.Lys198=) AND Primary ciliary dyskinesia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 21, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003651344.2
Allele description [Variation Report for NM_001277115.2(DNAH11):c.594G>A (p.Lys198=)]
NM_001277115.2(DNAH11):c.594G>A (p.Lys198=)
Condition(s)
- Name:
- Primary ciliary dyskinesia
- Synonyms:
- Ciliary dyskinesia
- Identifiers:
- MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265
-
Rattus norvegicus telomeric repeat binding factor (NIMA-interacting) 1, mRNA (cD...
Rattus norvegicus telomeric repeat binding factor (NIMA-interacting) 1, mRNA (cDNA clone MGC:109063 IMAGE:7374057), complete cdsgi|59808768|gb|BC089888.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024