MIPOL1
mirror-image polydactyly 1
Summary
This gene encodes a coiled-coil domain-containing protein. The encoded protein may function as a tumor suppressor. A translocation that results in truncation of the protein encoded by this locus has been associated with mirror-image polydactyly, also known as Laurin-Sandrow Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Sep 2010]
Known Variants48 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs8015022 | 14:37,677,427 | G/A | intron variant | — |
| rs34138206 | 14:37,685,086 | G/A | intron variant | — |
| rs8012643 | 14:37,692,864 | C/T | intron variant | — |
| rs12882311 | 14:37,698,787 | T/C | intron variant | — |
| rs61988304 | 14:37,699,544 | A/G | intron variant | — |
| rs72671718 | 14:37,705,024 | A/G | intron variant | — |
| rs8011459 | 14:37,708,006 | A/T | intron variant | — |
| rs775912098 | 14:37,736,146 | T/A | — | uncertain significance |
| rs558421762 | 14:37,736,149 | C/T | — | uncertain significance |
| rs1036086867 | 14:37,736,170 | A/G | — | uncertain significance |
| rs746082276 | 14:37,736,215 | C/T | — | uncertain significance |
| rs143309588 | 14:37,736,325 | A/T | — | uncertain significance |
| rs146170567 | 14:37,737,864 | G/T | — | uncertain significance |
| rs775450505 | 14:37,737,892 | A/G | — | uncertain significance |
| rs144389122 | 14:37,737,941 | G/A | — | likely benign |
| rs746878270 | 14:37,737,984 | A/G | — | likely benign |
| rs186609591 | 14:37,739,649 | G/A | — | uncertain significance |
| rs143254882 | 14:37,739,714 | T/C | — | likely benign |
| rs1385467838 | 14:37,754,649 | A/G | — | uncertain significance |
| rs2543923582 | 14:37,777,285 | A/C | — | uncertain significance |
| rs751518239 | 14:37,777,558 | T/C | — | uncertain significance |
| rs758750868 | 14:37,777,588 | C/T | — | uncertain significance |
| rs142293844 | 14:37,777,613 | G/T | — | uncertain significance |
| rs765555866 | 14:37,777,705 | G/A | — | uncertain significance |
| rs141585319 | 14:37,777,720 | C/T | — | uncertain significance |
| rs192652585 | 14:37,777,728 | A/G | splice region variant | — |
| rs10137741 | 14:37,802,697 | T/C | intron variant | — |
| rs34236737 | 14:37,805,061 | G/A | intron variant | — |
| rs536116930 | 14:37,806,565 | T/A | — | — |
| rs2544799396 | 14:37,838,768 | A/G | — | uncertain significance |
| rs373469932 | 14:37,838,837 | T/C | — | likely benign |
| rs749887026 | 14:37,892,072 | T/C | — | uncertain significance |
| rs757987681 | 14:37,892,075 | A/G | — | uncertain significance |
| rs146403404 | 14:37,931,822 | C/G | intron variant | — |
| rs10143976 | 14:37,968,636 | G/C | — | — |
| rs759198556 | 14:37,969,156 | T/C | — | uncertain significance |
| rs573869558 | 14:37,969,163 | A/C | — | uncertain significance |
| rs747031163 | 14:37,969,186 | G/A | — | uncertain significance |
| rs2095193094 | 14:37,969,246 | A/G | — | uncertain significance |
| rs7492724 | 14:37,973,353 | G/T | — | — |
| rs2095410966 | 14:37,990,394 | A/G | — | likely benign |
| rs1956438 | 14:38,008,215 | G/C | — | — |
| rs1159151 | 14:38,012,152 | C/T | intron variant | — |
| rs1956439 | 14:38,019,108 | C/T | 3 prime UTR variant | — |
| rs148131694 | 14:38,025,098 | T/G | — | — |
| rs75164522 | 14:38,025,712 | C/T | — | — |
| rs1956442 | 14:38,029,471 | A/G | upstream gene variant | — |
| rs1956443 | 14:38,030,512 | G/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.