CEP89 Chromosome 19
Centrosomal protein 89
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What This Gene Does
Involved in mitochondrial cytochrome c oxidase assembly and non-motile cilium assembly. Acts upstream of or within cilium assembly. Located in several cellular components, including microtubule cytoskeleton; mitochondrial intermembrane space; and nuclear body. Part of ciliary transition fiber. [provided by Alliance of Genome Resources, Jul 2025]
Key Variants
RS1356874927
Conflicting classifications of pathogenicity
Health Risk
RS142812224
Conflicting classifications of pathogenicity
Health Risk
RS144191823
Conflicting classifications of pathogenicity
Health Risk
RS182600896
Conflicting classifications of pathogenicity
Health Risk
RS201497197
Conflicting classifications of pathogenicity
Health Risk
RS759108044
Conflicting classifications of pathogenicity
Health Risk
RS764278381
Conflicting classifications of pathogenicity
Health Risk
RS766858182
Conflicting classifications of pathogenicity
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1356874927 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS142812224 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144191823 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS182600896 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201497197 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS759108044 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS764278381 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS766858182 | Health Risk | Conflicting classifications of pathogenicity | — |