CEP164 Chromosome 11
Centrosomal protein 164
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What This Gene Does
This gene encodes a centrosomal protein involved in microtubule organization, DNA damage response, and chromosome segregation. The encoded protein is required for assembly of primary cilia and localizes to mature centrioles. Defects in this gene are a cause of nephronophthisis-related ciliopathies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
Associated Conditions (7)
Nephronophthisis 15
CEP164-related disorder
Inborn genetic diseases
Retinal dystrophy
Ovarian serous cystadenocarcinoma
Renal dysplasia and retinal aplasia
Squamous cell lung carcinoma
Key Variants
RS1057521785
Conflicting classifications of pathogenicity
Nephronophthisis 15, Nephronophthisis 15
Health Risk
RS111915712
Conflicting classifications of pathogenicity
Nephronophthisis 15, CEP164-related disorder, Nephronophthisis 15
Health Risk
RS112209873
Conflicting classifications of pathogenicity
Nephronophthisis 15, CEP164-related disorder, Nephronophthisis 15
Health Risk
RS138868323
Conflicting classifications of pathogenicity
Nephronophthisis 15, CEP164-related disorder, Nephronophthisis 15
Health Risk
RS1423887740
Conflicting classifications of pathogenicity
Nephronophthisis 15, Nephronophthisis 15
Health Risk
RS143659874
Conflicting classifications of pathogenicity
Nephronophthisis 15, CEP164-related disorder, Nephronophthisis 15
Health Risk
RS144206271
Conflicting classifications of pathogenicity
Nephronophthisis 15, Inborn genetic diseases, Nephronophthisis 15
Health Risk
RS147398904
Conflicting classifications of pathogenicity
Nephronophthisis 15, Retinal dystrophy, CEP164-related disorder
Health Risk
RS148116542
Conflicting classifications of pathogenicity
Nephronophthisis 15, Nephronophthisis 15
Health Risk
RS149350006
Conflicting classifications of pathogenicity
Nephronophthisis 15, Nephronophthisis 15
Health Risk
RS150314805
Conflicting classifications of pathogenicity
Nephronophthisis 15, CEP164-related disorder, Retinal dystrophy
Health Risk
RS183392900
Conflicting classifications of pathogenicity
Nephronophthisis 15, Inborn genetic diseases, CEP164-related disorder
Health Risk
All Variants (136)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2541382558 | Health Risk | Pathogenic | Nephronophthisis 15, Nephronophthisis 15 |
| RS2541567891 | Health Risk | Pathogenic | Nephronophthisis 15, Nephronophthisis 15 |
| RS2541569380 | Health Risk | Pathogenic | Nephronophthisis 15, Nephronophthisis 15 |
| RS2541615817 | Health Risk | Pathogenic | Nephronophthisis 15, Nephronophthisis 15 |
| RS2541771087 | Health Risk | Pathogenic | Nephronophthisis 15, Nephronophthisis 15 |
| RS2541944514 | Health Risk | Pathogenic | Nephronophthisis 15, Nephronophthisis 15 |
| RS2542140157 | Health Risk | Pathogenic | Nephronophthisis 15, Nephronophthisis 15 |
| RS2542636119 | Health Risk | Pathogenic | Nephronophthisis 15, Nephronophthisis 15 |
| RS2542695614 | Health Risk | Pathogenic | Nephronophthisis 15, Nephronophthisis 15 |
| RS377597884 | Health Risk | Pathogenic | Nephronophthisis 15, Nephronophthisis 15 |
| RS387907309 | Health Risk | Pathogenic | Nephronophthisis 15, Nephronophthisis 15 |
| RS387907311 | Health Risk | Pathogenic | Nephronophthisis 15, Nephronophthisis 15 |
| RS746453731 | Health Risk | Pathogenic | Nephronophthisis 15, Nephronophthisis 15 |
| RS747130165 | Health Risk | Pathogenic | Nephronophthisis 15, Nephronophthisis 15 |
| RS747914869 | Health Risk | Pathogenic | Nephronophthisis 15, Retinal dystrophy, Nephronophthisis 15 |
| RS752518735 | Health Risk | Pathogenic | Nephronophthisis 15, Nephronophthisis 15 |
| RS755923652 | Health Risk | Pathogenic | Nephronophthisis 15, Nephronophthisis 15 |
| RS767138852 | Health Risk | Pathogenic | Nephronophthisis 15, Nephronophthisis 15 |
| RS780373529 | Health Risk | Pathogenic | Nephronophthisis 15, Nephronophthisis 15 |
| RS886041567 | Health Risk | Pathogenic | — |
| RS963142616 | Health Risk | Pathogenic | Nephronophthisis 15, Nephronophthisis 15 |
| RS1323529877 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis 15, Nephronophthisis 15 |
| RS1402460878 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis 15, Nephronophthisis 15 |
| RS140611214 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis 15, Nephronophthisis 15 |
| RS149195472 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis 15, Nephronophthisis 15 |
| RS2044893024 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis 15, CEP164-related disorder, Nephronophthisis 15 |
| RS2047135088 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis 15, Nephronophthisis 15 |
| RS2541303541 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis 15, Nephronophthisis 15 |
| RS2541384185 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis 15, Nephronophthisis 15 |
| RS2541982138 | Health Risk | Pathogenic/Likely pathogenic | CEP164-related disorder, Nephronophthisis 15, CEP164-related disorder |
| RS387907310 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis 15, Nephronophthisis 15 |
| RS562932233 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis 15, Nephronophthisis 15 |
| RS749114363 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis 15, Nephronophthisis 15 |
| RS764893412 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis 15, Nephronophthisis 15 |
| RS771312858 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis 15, Nephronophthisis 15 |
| RS774951398 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis 15, Nephronophthisis 15 |