CEP120 Chromosome 5
Centrosomal protein 120
Upload your DNA to see your personal genotypes for variants in CEP120.
What This Gene Does
This gene encodes a protein that functions in the microtubule-dependent coupling of the nucleus and the centrosome. A similar protein in mouse plays a role in both interkinetic nuclear migration, which is a characteristic pattern of nuclear movement in neural progenitors, and in neural progenitor self-renewal. Mutations in this gene are predicted to result in neurogenic defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Associated Conditions (5)
Short-rib thoracic dysplasia 13 with or without polydactyly
Inborn genetic diseases
CEP120-related disorder
Joubert syndrome 31
Chuvash polycythemia
Key Variants
RS140306974
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 13 with or without polydactyly, Inborn genetic diseases, CEP120-related disorder
Health Risk
RS150887058
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 13 with or without polydactyly, Inborn genetic diseases, Short-rib thoracic dysplasia 13 with or without polydactyly
Health Risk
RS200418811
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 13 with or without polydactyly, CEP120-related disorder, Short-rib thoracic dysplasia 13 with or without polydactyly
Health Risk
RS200450605
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 13 with or without polydactyly, Inborn genetic diseases, Short-rib thoracic dysplasia 13 with or without polydactyly
Health Risk
RS201560025
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 13 with or without polydactyly, Short-rib thoracic dysplasia 13 with or without polydactyly
Health Risk
RS201571160
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 13 with or without polydactyly, Inborn genetic diseases, Joubert syndrome 31
Health Risk
RS202103949
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 13 with or without polydactyly, Inborn genetic diseases, Short-rib thoracic dysplasia 13 with or without polydactyly
Health Risk
RS370142490
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 13 with or without polydactyly, Inborn genetic diseases, Short-rib thoracic dysplasia 13 with or without polydactyly
Health Risk
RS374881013
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS560737688
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 13 with or without polydactyly, Inborn genetic diseases, Short-rib thoracic dysplasia 13 with or without polydactyly
Health Risk
RS748599073
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 13 with or without polydactyly, Inborn genetic diseases, Short-rib thoracic dysplasia 13 with or without polydactyly
Health Risk
RS749655305
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 13 with or without polydactyly, Inborn genetic diseases, Short-rib thoracic dysplasia 13 with or without polydactyly
Health Risk
All Variants (49)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140306974 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 13 with or without polydactyly, Inborn genetic diseases, CEP120-related disorder |
| RS150887058 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 13 with or without polydactyly, Inborn genetic diseases, Short-rib thoracic dysplasia 13 with or without polydactyly |
| RS200418811 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 13 with or without polydactyly, CEP120-related disorder, Short-rib thoracic dysplasia 13 with or without polydactyly |
| RS200450605 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 13 with or without polydactyly, Inborn genetic diseases, Short-rib thoracic dysplasia 13 with or without polydactyly |
| RS201560025 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 13 with or without polydactyly, Short-rib thoracic dysplasia 13 with or without polydactyly |
| RS201571160 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 13 with or without polydactyly, Inborn genetic diseases, Joubert syndrome 31 |
| RS202103949 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 13 with or without polydactyly, Inborn genetic diseases, Short-rib thoracic dysplasia 13 with or without polydactyly |
| RS370142490 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 13 with or without polydactyly, Inborn genetic diseases, Short-rib thoracic dysplasia 13 with or without polydactyly |
| RS374881013 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS560737688 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 13 with or without polydactyly, Inborn genetic diseases, Short-rib thoracic dysplasia 13 with or without polydactyly |
| RS748599073 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 13 with or without polydactyly, Inborn genetic diseases, Short-rib thoracic dysplasia 13 with or without polydactyly |
| RS749655305 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 13 with or without polydactyly, Inborn genetic diseases, Short-rib thoracic dysplasia 13 with or without polydactyly |
| RS751682861 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 13 with or without polydactyly, Inborn genetic diseases, Short-rib thoracic dysplasia 13 with or without polydactyly |
| RS753763495 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 13 with or without polydactyly, Inborn genetic diseases, Short-rib thoracic dysplasia 13 with or without polydactyly |
| RS765938298 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 13 with or without polydactyly, Inborn genetic diseases, Short-rib thoracic dysplasia 13 with or without polydactyly |
| RS766787576 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Short-rib thoracic dysplasia 13 with or without polydactyly, Inborn genetic diseases |
| RS771132137 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 13 with or without polydactyly, Inborn genetic diseases, Joubert syndrome 31 |
| RS775080726 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 31, Short-rib thoracic dysplasia 13 with or without polydactyly, Joubert syndrome 31 |
| RS777235472 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 13 with or without polydactyly, Inborn genetic diseases, Short-rib thoracic dysplasia 13 with or without polydactyly |
| RS779407868 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 13 with or without polydactyly, Inborn genetic diseases, Short-rib thoracic dysplasia 13 with or without polydactyly |
| RS1131691279 | Health Risk | Likely pathogenic | — |
| RS1131691280 | Health Risk | Likely pathogenic | — |
| RS1195825877 | Health Risk | Likely pathogenic | — |
| RS1298746018 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 13 with or without polydactyly, Short-rib thoracic dysplasia 13 with or without polydactyly |
| RS1770319706 | Health Risk | Likely pathogenic | — |
| RS2127068062 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 13 with or without polydactyly, Short-rib thoracic dysplasia 13 with or without polydactyly |
| RS2479298976 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 13 with or without polydactyly, Short-rib thoracic dysplasia 13 with or without polydactyly |
| RS2479303124 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 13 with or without polydactyly, Short-rib thoracic dysplasia 13 with or without polydactyly |
| RS2479304832 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 13 with or without polydactyly, Short-rib thoracic dysplasia 13 with or without polydactyly |
| RS2479747890 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 13 with or without polydactyly, Short-rib thoracic dysplasia 13 with or without polydactyly |
| RS757499322 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 13 with or without polydactyly, Chuvash polycythemia, Short-rib thoracic dysplasia 13 with or without polydactyly |
| RS774440370 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 13 with or without polydactyly, Short-rib thoracic dysplasia 13 with or without polydactyly |
| RS1228099402 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 13 with or without polydactyly, Short-rib thoracic dysplasia 13 with or without polydactyly |
| RS1554098663 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 13 with or without polydactyly, Short-rib thoracic dysplasia 13 with or without polydactyly |
| RS1554102026 | Health Risk | Pathogenic | Joubert syndrome 31, Joubert syndrome 31 |
| RS1554103267 | Health Risk | Pathogenic | Joubert syndrome 31, Joubert syndrome 31 |
| RS1554104276 | Health Risk | Pathogenic | Joubert syndrome 31, Joubert syndrome 31 |
| RS1772529903 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 13 with or without polydactyly, Short-rib thoracic dysplasia 13 with or without polydactyly |
| RS2127034914 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 13 with or without polydactyly, Short-rib thoracic dysplasia 13 with or without polydactyly |
| RS2127055990 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 13 with or without polydactyly, Short-rib thoracic dysplasia 13 with or without polydactyly |
| RS2127059805 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 13 with or without polydactyly, Short-rib thoracic dysplasia 13 with or without polydactyly |
| RS2127071022 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 13 with or without polydactyly, Short-rib thoracic dysplasia 13 with or without polydactyly |
| RS2479647819 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 13 with or without polydactyly, Short-rib thoracic dysplasia 13 with or without polydactyly |
| RS2479788124 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 13 with or without polydactyly, Short-rib thoracic dysplasia 13 with or without polydactyly |
| RS552760651 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 13 with or without polydactyly, Short-rib thoracic dysplasia 13 with or without polydactyly |
| RS2127056186 | Health Risk | Pathogenic/Likely pathogenic | Short-rib thoracic dysplasia 13 with or without polydactyly, Short-rib thoracic dysplasia 13 with or without polydactyly |
| RS367600930 | Health Risk | Pathogenic/Likely pathogenic | Short-rib thoracic dysplasia 13 with or without polydactyly, Short-rib thoracic dysplasia 13 with or without polydactyly |
| RS759125480 | Health Risk | Pathogenic/Likely pathogenic | Short-rib thoracic dysplasia 13 with or without polydactyly, Short-rib thoracic dysplasia 13 with or without polydactyly |
| RS781434539 | Health Risk | Pathogenic/Likely pathogenic | Short-rib thoracic dysplasia 13 with or without polydactyly, Joubert syndrome 31, Short-rib thoracic dysplasia 13 with or without polydactyly |