NM_001277115.2(DNAH11):c.3294A>G (p.Lys1098=) AND Primary ciliary dyskinesia
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Apr 18, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003847294.1
Allele description [Variation Report for NM_001277115.2(DNAH11):c.3294A>G (p.Lys1098=)]
NM_001277115.2(DNAH11):c.3294A>G (p.Lys1098=)
Condition(s)
- Name:
- Primary ciliary dyskinesia
- Synonyms:
- Ciliary dyskinesia
- Identifiers:
- MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265
-
DEP domain-containing protein 1B isoform 1 [Homo sapiens]
DEP domain-containing protein 1B isoform 1 [Homo sapiens]gi|223633999|ref|NP_060839.2|Protein
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See more...Assertion and evidence details
Last Updated: May 12, 2024