CEP63 Chromosome 3
Centrosomal protein 63
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What This Gene Does
This gene encodes a protein with six coiled-coil domains. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. Several alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Associated Conditions (4)
Seckel syndrome 6
Familial cancer of breast
Inborn genetic diseases
Papillary renal cell carcinoma type 1
Key Variants
RS142766824
Conflicting classifications of pathogenicity
Health Risk
RS372685774
Conflicting classifications of pathogenicity
Seckel syndrome 6, Seckel syndrome 6
Health Risk
RS529386244
Conflicting classifications of pathogenicity
Health Risk
RS752207334
Conflicting classifications of pathogenicity
Seckel syndrome 6, Familial cancer of breast, Seckel syndrome 6
Health Risk
RS763001827
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS765783970
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS797045459
Conflicting classifications of pathogenicity
Health Risk
RS1185168725
Likely pathogenic
Health Risk
RS1396633264
Likely pathogenic
Health Risk
RS150764448
Likely pathogenic
Papillary renal cell carcinoma type 1, Papillary renal cell carcinoma type 1
Health Risk
RS1956657659
Likely pathogenic
Health Risk
RS2109591981
Likely pathogenic
Seckel syndrome 6, Seckel syndrome 6
Health Risk
All Variants (36)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142766824 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS372685774 | Health Risk | Conflicting classifications of pathogenicity | Seckel syndrome 6, Seckel syndrome 6 |
| RS529386244 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS752207334 | Health Risk | Conflicting classifications of pathogenicity | Seckel syndrome 6, Familial cancer of breast, Seckel syndrome 6 |
| RS763001827 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS765783970 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS797045459 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1185168725 | Health Risk | Likely pathogenic | — |
| RS1396633264 | Health Risk | Likely pathogenic | — |
| RS150764448 | Health Risk | Likely pathogenic | Papillary renal cell carcinoma type 1, Papillary renal cell carcinoma type 1 |
| RS1956657659 | Health Risk | Likely pathogenic | — |
| RS2109591981 | Health Risk | Likely pathogenic | Seckel syndrome 6, Seckel syndrome 6 |
| RS2547181177 | Health Risk | Likely pathogenic | Seckel syndrome 6, Seckel syndrome 6 |
| RS746387482 | Health Risk | Likely pathogenic | Seckel syndrome 6, Seckel syndrome 6 |
| RS753579827 | Health Risk | Likely pathogenic | Seckel syndrome 6, Seckel syndrome 6 |
| RS769414976 | Health Risk | Likely pathogenic | — |
| RS773725359 | Health Risk | Likely pathogenic | Seckel syndrome 6, Seckel syndrome 6 |
| RS867015582 | Health Risk | Likely pathogenic | — |
| RS1164567042 | Health Risk | Pathogenic | Seckel syndrome 6, Seckel syndrome 6 |
| RS1187435534 | Health Risk | Pathogenic | — |
| RS1266747910 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1358372238 | Health Risk | Pathogenic | — |
| RS1378870937 | Health Risk | Pathogenic | — |
| RS141121335 | Health Risk | Pathogenic | — |
| RS1953288507 | Health Risk | Pathogenic | — |
| RS2546774426 | Health Risk | Pathogenic | — |
| RS2546848928 | Health Risk | Pathogenic | Seckel syndrome 6, Seckel syndrome 6 |
| RS2546985015 | Health Risk | Pathogenic | — |
| RS2547015012 | Health Risk | Pathogenic | — |
| RS368122278 | Health Risk | Pathogenic | — |
| RS753461493 | Health Risk | Pathogenic | — |
| RS756469612 | Health Risk | Pathogenic | — |
| RS771949417 | Health Risk | Pathogenic | — |
| RS774485513 | Health Risk | Pathogenic | — |
| RS775712041 | Health Risk | Pathogenic | — |
| RS933176029 | Health Risk | Pathogenic | — |