CFAP74 Chromosome 1
Cilia and flagella associated protein 74
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What This Gene Does
Predicted to be involved in axoneme assembly. Located in cytoplasm; nucleus; and sperm flagellum. Implicated in primary ciliary dyskinesia. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Cilia and flagella associated
Locus Type
gene with protein product
Location
1p36.33
Ensembl
ENSG00000142609
Associated Conditions (4)
Ciliary dyskinesia
primary
49
without situs inversus
Key Variants
RS578234038
Likely pathogenic
Ciliary dyskinesia, primary, 49
Health Risk
RS761237701
Likely pathogenic
Ciliary dyskinesia, primary, 49
Health Risk
RS1406976795
Pathogenic
Ciliary dyskinesia, primary, 49
Health Risk
RS533425606
Pathogenic
Ciliary dyskinesia, primary, 49
Health Risk
RS559543526
Pathogenic
Ciliary dyskinesia, primary, 49
Health Risk
RS570149409
Pathogenic
Ciliary dyskinesia, primary, 49
Health Risk
RS755467514
Pathogenic
Ciliary dyskinesia, primary, 49
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS578234038 | Health Risk | Likely pathogenic | Ciliary dyskinesia, primary, 49 |
| RS761237701 | Health Risk | Likely pathogenic | Ciliary dyskinesia, primary, 49 |
| RS1406976795 | Health Risk | Pathogenic | Ciliary dyskinesia, primary, 49 |
| RS533425606 | Health Risk | Pathogenic | Ciliary dyskinesia, primary, 49 |
| RS559543526 | Health Risk | Pathogenic | Ciliary dyskinesia, primary, 49 |
| RS570149409 | Health Risk | Pathogenic | Ciliary dyskinesia, primary, 49 |
| RS755467514 | Health Risk | Pathogenic | Ciliary dyskinesia, primary, 49 |