CFAP300 cilia and flagella associated protein 300
Gene ID: 85016, updated on 2-Nov-2024Gene type: protein coding
Also known as: FBB5; CILD38; DNAAF17; C11orf70
- See all available tests in GTR for this gene
- Go to complete Gene record for CFAP300
- Go to Variation Viewer for CFAP300 variants
Summary
Predicted to be located in cytoplasm and motile cilium. Implicated in primary ciliary dyskinesia 38. [provided by Alliance of Genome Resources, Nov 2024]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Ciliary dyskinesia, primary, 38 | See labs |
Genomic context
- Location:
- 11q22.1
- Sequence:
- Chromosome: 11; NC_000011.10 (102047437..102084554)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CFAP300 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.