NM_017950.4(CCDC40):c.1414C>T (p.Arg472Trp) AND Primary ciliary dyskinesia
- Germline classification:
- Uncertain significance (3 submissions)
- Last evaluated:
- May 21, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000816546.12
Allele description [Variation Report for NM_017950.4(CCDC40):c.1414C>T (p.Arg472Trp)]
NM_017950.4(CCDC40):c.1414C>T (p.Arg472Trp)
Condition(s)
- Name:
- Primary ciliary dyskinesia
- Synonyms:
- Ciliary dyskinesia
- Identifiers:
- MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265
-
Cecropterus dobra voucher NVG-11182
Cecropterus dobra voucher NVG-11182biosample
-
Cecropterus nevada nevada voucher LACM:NVG-14114A10
Cecropterus nevada nevada voucher LACM:NVG-14114A10biosample
-
cytochrome c oxidase subunit I, partial (mitochondrion) [Ceratodictyon sp.]
cytochrome c oxidase subunit I, partial (mitochondrion) [Ceratodictyon sp.]gi|2422684310|gb|WBN91020.1|Protein
-
radial spoke head 14 homolog [Homo sapiens]
radial spoke head 14 homolog [Homo sapiens]gi|7657530|ref|NP_055248.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024