CFAP300 Chromosome 11
Cilia and flagella associated protein 300
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What This Gene Does
Predicted to be located in cytoplasm and motile cilium. Implicated in primary ciliary dyskinesia 38. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Cilia and flagella associated|Axonemal dynein assembly factors"
Locus Type
gene with protein product
Location
11q22.1
Ensembl
ENSG00000137691
Associated Conditions (7)
Melanoma
Ciliary dyskinesia
primary
38
Primary ciliary dyskinesia
CFAP300-related disorder
Heterotaxy
Key Variants
RS1942231774
Likely pathogenic
Melanoma, Melanoma
Health Risk
RS2496303476
Likely pathogenic
Ciliary dyskinesia, primary, 38
Health Risk
RS746604945
Likely pathogenic
Health Risk
RS865809219
Likely pathogenic
Health Risk
RS140641107
Pathogenic
Health Risk
RS1555069023
Pathogenic
Ciliary dyskinesia, primary, 38
Health Risk
RS1555071691
Pathogenic
Ciliary dyskinesia, primary, 38
Health Risk
RS2135055284
Pathogenic
Heterotaxy, Heterotaxy
Health Risk
RS2496335021
Pathogenic
Health Risk
RS2496352247
Pathogenic
Health Risk
RS561237622
Pathogenic
Ciliary dyskinesia, primary, 38
Health Risk
RS745839898
Pathogenic
Ciliary dyskinesia, primary, 38
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1942231774 | Health Risk | Likely pathogenic | Melanoma, Melanoma |
| RS2496303476 | Health Risk | Likely pathogenic | Ciliary dyskinesia, primary, 38 |
| RS746604945 | Health Risk | Likely pathogenic | — |
| RS865809219 | Health Risk | Likely pathogenic | — |
| RS140641107 | Health Risk | Pathogenic | — |
| RS1555069023 | Health Risk | Pathogenic | Ciliary dyskinesia, primary, 38 |
| RS1555071691 | Health Risk | Pathogenic | Ciliary dyskinesia, primary, 38 |
| RS2135055284 | Health Risk | Pathogenic | Heterotaxy, Heterotaxy |
| RS2496335021 | Health Risk | Pathogenic | — |
| RS2496352247 | Health Risk | Pathogenic | — |
| RS561237622 | Health Risk | Pathogenic | Ciliary dyskinesia, primary, 38 |
| RS745839898 | Health Risk | Pathogenic | Ciliary dyskinesia, primary, 38 |
| RS754773453 | Health Risk | Pathogenic | Ciliary dyskinesia, primary, 38 |
| RS763307794 | Health Risk | Pathogenic | — |
| RS767760877 | Health Risk | Pathogenic | Ciliary dyskinesia, primary, 38 |
| RS762224876 | Health Risk | Pathogenic/Likely pathogenic | Ciliary dyskinesia, primary, 38 |