CRBN
cereblon
Summary
This gene encodes a protein related to the Lon protease protein family. In rodents and other mammals this gene product is found in the cytoplasm localized with a calcium channel membrane protein, and is thought to play a role in brain development. Mutations in this gene are associated with autosomal recessive nonsyndromic cognitive disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
Known Variants73 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs147065790 | 3:3,192,570 | G/A | — | likely benign |
| rs566932471 | 3:3,192,604 | G/A | — | likely benign |
| rs200513126 | 3:3,192,624 | C/T | — | likely benign |
| rs199720401 | 3:3,192,636 | A/G | — | benign |
| rs1706496081 | 3:3,192,645 | A/G | — | likely benign |
| rs770018396 | 3:3,192,656 | C/T | — | uncertain significance |
| rs116847323 | 3:3,192,669 | C/T | — | benign |
| rs372938485 | 3:3,194,131 | T/C | — | uncertain significance |
| rs375905223 | 3:3,194,134 | T/C | — | likely benign |
| rs573677293 | 3:3,194,170 | C/A | — | uncertain significance |
| rs775940573 | 3:3,194,171 | G/A | — | uncertain significance |
| rs1575079076 | 3:3,194,188 | T/A | — | likely pathogenic |
| rs1177099657 | 3:3,194,217 | A/G | — | likely benign |
| rs757533243 | 3:3,194,258 | C/T | — | uncertain significance |
| rs918628526 | 3:3,195,157 | A/G | — | uncertain significance |
| rs142337178 | 3:3,195,658 | C/G | — | uncertain significance |
| rs755304141 | 3:3,195,746 | T/G | — | uncertain significance |
| rs1226252969 | 3:3,196,430 | C/T | — | pathogenic |
| rs2471425090 | 3:3,196,469 | T/C | — | uncertain significance |
| rs1450725934 | 3:3,196,475 | C/T | — | likely pathogenic |
| rs1705789 | 3:3,197,871 | T/C | — | benign |
| rs17027638 | 3:3,197,918 | A/G | — | benign |
| rs750933737 | 3:3,197,928 | C/G | — | uncertain significance |
| rs541404259 | 3:3,197,929 | G/A | — | conflicting classifications of pathogenicity |
| rs1669338 | 3:3,199,635 | A/G | — | — |
| rs17027750 | 3:3,203,504 | A/G | intron variant | — |
| rs3804785 | 3:3,205,142 | T/G | intron variant | — |
| rs1490291207 | 3:3,209,343 | T/C | — | likely benign |
| rs373145132 | 3:3,209,351 | T/C | — | conflicting classifications of pathogenicity |
| rs1575094649 | 3:3,209,364 | G/C | — | likely pathogenic |
| rs141771026 | 3:3,209,371 | G/C | — | uncertain significance |
| rs750379138 | 3:3,209,383 | A/G | — | uncertain significance |
| rs751660354 | 3:3,209,390 | G/C | — | uncertain significance |
| rs781502215 | 3:3,209,391 | C/T | — | uncertain significance |
| rs778178677 | 3:3,209,411 | T/C | — | likely benign |
| rs201974649 | 3:3,209,416 | C/T | — | likely benign |
| rs1448818496 | 3:3,209,421 | G/A | — | uncertain significance |
| rs2471462748 | 3:3,209,429 | T/G | — | likely benign |
| rs150595840 | 3:3,209,441 | A/G | — | likely benign |
| rs2126067673 | 3:3,214,507 | A/G | — | likely benign |
| rs780779823 | 3:3,214,549 | T/C | — | benign |
| rs755774735 | 3:3,214,553 | C/T | — | uncertain significance |
| rs1302797003 | 3:3,214,554 | G/A | — | pathogenic |
| rs199841185 | 3:3,214,576 | T/G | — | likely benign |
| rs745762376 | 3:3,214,586 | T/C | — | uncertain significance |
| rs115124101 | 3:3,215,730 | G/T | — | uncertain significance |
| rs781289482 | 3:3,215,820 | C/A | — | uncertain significance |
| rs797045481 | 3:3,215,834 | T/C | — | uncertain significance |
| rs773279779 | 3:3,215,841 | G/T | — | likely benign |
| rs1372218265 | 3:3,215,865 | T/C | — | likely benign |
| rs377356443 | 3:3,215,885 | G/A | — | likely pathogenic |
| rs370224981 | 3:3,215,894 | C/T | — | uncertain significance |
| rs1045309 | 3:3,215,901 | G/A | — | benign |
| rs1312427130 | 3:3,215,917 | T/C | — | uncertain significance |
| rs151039737 | 3:3,215,950 | A/T | — | likely benign |
| rs1669321 | 3:3,215,954 | A/G | — | benign |
| rs1707781160 | 3:3,216,867 | T/C | — | uncertain significance |
| rs2126069389 | 3:3,216,897 | T/A | — | likely pathogenic |
| rs1397046310 | 3:3,216,927 | C/T | — | uncertain significance |
| rs78564552 | 3:3,216,933 | C/T | — | conflicting classifications of pathogenicity |
| rs2471487638 | 3:3,216,949 | C/G | — | uncertain significance |
| rs76714935 | 3:3,219,261 | G/A | intron variant | — |
| rs753095651 | 3:3,221,332 | T/A | — | uncertain significance |
| rs1392453549 | 3:3,221,337 | T/G | — | uncertain significance |
| rs797045482 | 3:3,221,338 | G/A | — | uncertain significance |
| rs749799282 | 3:3,221,341 | C/A | — | uncertain significance |
| rs137880766 | 3:3,221,343 | G/C | — | uncertain significance |
| rs776519022 | 3:3,221,345 | G/C | — | conflicting classifications of pathogenicity |
| rs192011911 | 3:3,221,352 | T/C | — | uncertain significance |
| rs756440147 | 3:3,221,356 | C/G | — | uncertain significance |
| rs757719993 | 3:3,221,365 | C/G | — | uncertain significance |
| rs1672753 | 3:3,221,430 | C/T | regulatory region variant | — |
| rs6768972 | 3:3,221,785 | A/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.