CEP250 Chromosome 20
Centrosomal protein 250
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What This Gene Does
This gene encodes a core centrosomal protein required for centriole-centriole cohesion during interphase of the cell cycle. The encoded protein dissociates from the centrosomes when parental centrioles separate at the beginning of mitosis. The protein associates with and is phosphorylated by NIMA-related kinase 2, which is also associated with the centrosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Associated Conditions (9)
Retinal dystrophy
CEP250-related disorder
Cone-rod dystrophy and hearing loss 2
Monogenic hearing loss
Thyroid cancer
nonmedullary
1
Usher syndrome
Gastric cancer
Key Variants
RS1036530132
Conflicting classifications of pathogenicity
Health Risk
RS1298763139
Conflicting classifications of pathogenicity
Health Risk
RS143561620
Conflicting classifications of pathogenicity
Health Risk
RS144024361
Conflicting classifications of pathogenicity
Health Risk
RS145352934
Conflicting classifications of pathogenicity
Health Risk
RS145878385
Conflicting classifications of pathogenicity
Retinal dystrophy, CEP250-related disorder, Cone-rod dystrophy and hearing loss 2
Health Risk
RS199900436
Conflicting classifications of pathogenicity
Health Risk
RS199936529
Conflicting classifications of pathogenicity
Health Risk
RS200083040
Conflicting classifications of pathogenicity
Monogenic hearing loss, Cone-rod dystrophy and hearing loss 2, Monogenic hearing loss
Health Risk
RS200449873
Conflicting classifications of pathogenicity
Health Risk
RS201801448
Conflicting classifications of pathogenicity
Health Risk
RS375032151
Conflicting classifications of pathogenicity
Health Risk
All Variants (90)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2064077764 | Health Risk | Pathogenic | Cone-rod dystrophy and hearing loss 2, Cone-rod dystrophy and hearing loss 2 |
| RS2064092893 | Health Risk | Pathogenic | Cone-rod dystrophy and hearing loss 2, Cone-rod dystrophy and hearing loss 2 |
| RS2064136104 | Health Risk | Pathogenic | — |
| RS2146671573 | Health Risk | Pathogenic | — |
| RS2146707223 | Health Risk | Pathogenic | — |
| RS2146792205 | Health Risk | Pathogenic | — |
| RS2146822389 | Health Risk | Pathogenic | — |
| RS2147070761 | Health Risk | Pathogenic | — |
| RS2147164893 | Health Risk | Pathogenic | — |
| RS2147174157 | Health Risk | Pathogenic | — |
| RS2147179056 | Health Risk | Pathogenic | — |
| RS2147208997 | Health Risk | Pathogenic | — |
| RS2515582964 | Health Risk | Pathogenic | — |
| RS2515583042 | Health Risk | Pathogenic | — |
| RS2516232840 | Health Risk | Pathogenic | — |
| RS2516234229 | Health Risk | Pathogenic | — |
| RS2516235312 | Health Risk | Pathogenic | — |
| RS2516244932 | Health Risk | Pathogenic | — |
| RS2516260557 | Health Risk | Pathogenic | — |
| RS2516279954 | Health Risk | Pathogenic | — |
| RS34859138 | Health Risk | Pathogenic | — |
| RS368932742 | Health Risk | Pathogenic | — |
| RS373164723 | Health Risk | Pathogenic | — |
| RS754488798 | Health Risk | Pathogenic | — |
| RS757158876 | Health Risk | Pathogenic | Cone-rod dystrophy and hearing loss 2, Cone-rod dystrophy and hearing loss 2 |
| RS758057228 | Health Risk | Pathogenic | — |
| RS766398435 | Health Risk | Pathogenic | — |
| RS768511308 | Health Risk | Pathogenic | — |
| RS772325649 | Health Risk | Pathogenic | — |
| RS773637285 | Health Risk | Pathogenic | — |
| RS774612231 | Health Risk | Pathogenic | Cone-rod dystrophy and hearing loss 2, Thyroid cancer, nonmedullary |
| RS775811770 | Health Risk | Pathogenic | — |
| RS776554898 | Health Risk | Pathogenic | — |
| RS776950412 | Health Risk | Pathogenic | — |
| RS780249987 | Health Risk | Pathogenic | — |
| RS1243282597 | Health Risk | Pathogenic/Likely pathogenic | CEP250-related disorder, CEP250-related disorder |
| RS1568806160 | Health Risk | Pathogenic/Likely pathogenic | CEP250-related disorder, CEP250-related disorder |
| RS749314857 | Health Risk | Pathogenic/Likely pathogenic | Cone-rod dystrophy and hearing loss 2, Usher syndrome, Cone-rod dystrophy and hearing loss 2 |
| RS749883566 | Health Risk | Pathogenic/Likely pathogenic | Cone-rod dystrophy and hearing loss 2, Cone-rod dystrophy and hearing loss 2 |
| RS774702094 | Health Risk | Pathogenic/Likely pathogenic | Cone-rod dystrophy and hearing loss 2, Gastric cancer, Cone-rod dystrophy and hearing loss 2 |