CEP120
centrosomal protein 120
Summary
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]
Known Variants413 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs112271669 | 5:122,681,966 | A/T | — | likely benign |
| rs2303719 | 5:122,682,154 | T/G | — | benign |
| rs377634928 | 5:122,682,213 | T/C | — | likely benign |
| rs780399076 | 5:122,682,220 | C/T | — | uncertain significance |
| rs779520185 | 5:122,682,243 | C/T | — | likely benign |
| rs145436175 | 5:122,682,248 | T/C | — | uncertain significance |
| rs147730520 | 5:122,682,249 | G/A | — | likely benign |
| rs1554098663 | 5:122,682,250 | A/C | — | pathogenic |
| rs201560025 | 5:122,682,257 | G/A | — | conflicting classifications of pathogenicity |
| rs759424375 | 5:122,682,277 | C/T | — | uncertain significance |
| rs142459804 | 5:122,682,285 | G/A | — | likely benign |
| rs2303720 | 5:122,682,334 | C/T | — | benign |
| rs2126957635 | 5:122,682,335 | G/A | — | uncertain significance |
| rs1047438 | 5:122,682,348 | A/G | — | benign |
| rs1580615500 | 5:122,682,350 | C/T | — | uncertain significance |
| rs1768844265 | 5:122,682,367 | A/C | — | uncertain significance |
| rs775237242 | 5:122,682,375 | A/G | — | likely benign |
| rs1768847284 | 5:122,682,389 | T/G | — | uncertain significance |
| rs200172929 | 5:122,682,393 | T/A | — | likely benign |
| rs2479647712 | 5:122,682,421 | T/A | — | uncertain significance |
| rs2479647819 | 5:122,682,431 | G/A | — | pathogenic |
| rs1768853529 | 5:122,682,434 | C/T | — | uncertain significance |
| rs758997502 | 5:122,682,438 | T/C | — | likely benign |
| rs2479648285 | 5:122,682,485 | G/A | — | likely benign |
| rs2115172 | 5:122,685,128 | A/G | intron variant | — |
| rs2115173 | 5:122,685,348 | T/C | — | benign |
| rs372179943 | 5:122,685,618 | A/G | — | likely benign |
| rs2479664096 | 5:122,685,619 | A/G | — | likely benign |
| rs1561986898 | 5:122,685,622 | C/A | — | likely benign |
| rs115044327 | 5:122,685,624 | T/A | — | likely benign |
| rs1428398728 | 5:122,685,625 | T/C | — | likely benign |
| rs763451025 | 5:122,685,653 | C/A | — | uncertain significance |
| rs138517071 | 5:122,685,657 | T/C | — | uncertain significance |
| rs531728977 | 5:122,685,674 | C/T | — | uncertain significance |
| rs780184609 | 5:122,685,678 | C/T | — | uncertain significance |
| rs529165835 | 5:122,685,679 | G/A | — | likely benign |
| rs370748677 | 5:122,685,705 | C/T | — | uncertain significance |
| rs368260761 | 5:122,685,716 | C/T | — | uncertain significance |
| rs140306974 | 5:122,685,717 | G/A | — | conflicting classifications of pathogenicity |
| rs763397454 | 5:122,685,726 | T/G | — | uncertain significance |
| rs1047437 | 5:122,685,727 | C/G | — | benign |
| rs963767744 | 5:122,685,745 | C/G | — | uncertain significance |
| rs771132137 | 5:122,685,758 | C/T | — | conflicting classifications of pathogenicity |
| rs371666277 | 5:122,685,759 | G/A | — | uncertain significance |
| rs945583405 | 5:122,685,799 | G/T | — | likely benign |
| rs485847 | 5:122,685,801 | G/A | — | benign |
| rs79413938 | 5:122,686,099 | T/C | — | benign |
| rs28891214 | 5:122,690,889 | T/C | intron variant | — |
| rs11241689 | 5:122,692,080 | C/T | intron variant | — |
| rs6595439 | 5:122,692,786 | G/A | — | — |
| rs890928 | 5:122,696,367 | A/C | intron variant | — |
| rs9327293 | 5:122,699,425 | T/G | — | — |
| rs200418811 | 5:122,700,184 | A/C | — | conflicting classifications of pathogenicity |
| rs1770316078 | 5:122,700,186 | A/C | — | uncertain significance |
| rs2479747890 | 5:122,700,188 | A/T | — | likely pathogenic |
| rs1391862692 | 5:122,700,197 | A/G | — | uncertain significance |
| rs772596480 | 5:122,700,222 | G/C | — | uncertain significance |
| rs2479748513 | 5:122,700,246 | G/A | — | likely benign |
| rs2127002614 | 5:122,700,276 | T/C | — | uncertain significance |
| rs1226218781 | 5:122,700,308 | T/C | — | likely benign |
| rs4267865 | 5:122,704,342 | G/T | intron variant | — |
| rs1428388 | 5:122,704,649 | C/T | intron variant | — |
| rs1428387 | 5:122,705,244 | C/T | — | benign |
| rs116128023 | 5:122,708,273 | T/A | — | likely benign |
| rs773707757 | 5:122,708,324 | C/A | — | likely benign |
| rs544074055 | 5:122,708,338 | G/A | — | uncertain significance |
| rs765442218 | 5:122,708,363 | T/C | — | uncertain significance |
| rs775747603 | 5:122,708,367 | T/C | — | uncertain significance |
| rs1228099402 | 5:122,708,376 | G/A | — | pathogenic |
| rs142792779 | 5:122,708,381 | C/T | — | likely benign |
| rs757166785 | 5:122,708,382 | G/A | — | uncertain significance |
| rs2479787525 | 5:122,708,390 | G/T | — | uncertain significance |
| rs1770933357 | 5:122,708,407 | G/T | — | uncertain significance |
| rs778029588 | 5:122,708,419 | T/C | — | likely benign |
| rs2479788124 | 5:122,708,448 | T/A | — | pathogenic |
| rs570367630 | 5:122,708,474 | A/T | — | likely benign |
| rs10478580 | 5:122,711,168 | C/T | intron variant | — |
| rs139462181 | 5:122,713,048 | T/C | — | likely benign |
| rs201232590 | 5:122,713,050 | A/G | — | likely benign |
| rs114558677 | 5:122,713,054 | G/A | — | benign |
| rs778675981 | 5:122,713,057 | C/T | — | likely benign |
| rs751838908 | 5:122,713,058 | G/A | — | likely benign |
| rs781621962 | 5:122,713,060 | T/G | — | likely benign |
| rs373782883 | 5:122,713,065 | A/C | — | uncertain significance |
| rs1131691280 | 5:122,713,067 | C/G | — | likely pathogenic |
| rs768733124 | 5:122,713,081 | C/T | — | uncertain significance |
| rs774705290 | 5:122,713,082 | G/A | — | uncertain significance |
| rs200477463 | 5:122,713,093 | T/C | — | uncertain significance |
| rs759125480 | 5:122,713,103 | G/A | — | pathogenic |
| rs764784186 | 5:122,713,113 | T/C | — | likely benign |
| rs2479273623 | 5:122,713,124 | G/A | — | likely benign |
| rs1482472714 | 5:122,713,125 | T/G | — | uncertain significance |
| rs756593532 | 5:122,713,134 | G/C | — | uncertain significance |
| rs2127034566 | 5:122,713,143 | G/C | — | uncertain significance |
| rs1005671778 | 5:122,713,160 | G/A | — | uncertain significance |
| rs771949596 | 5:122,713,167 | G/T | — | uncertain significance |
| rs375645626 | 5:122,713,189 | C/T | — | uncertain significance |
| rs201600892 | 5:122,713,191 | C/G | — | uncertain significance |
| rs750757836 | 5:122,713,206 | C/A | — | likely benign |
| rs766787576 | 5:122,713,223 | T/C | — | conflicting classifications of pathogenicity |
Showing 100 of 413 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.