HOXD13
homeobox D13
Summary
This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. Mutations in this particular gene cause synpolydactyly. [provided by RefSeq, Jul 2008]
Known Variants81 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs185086675 | 2:176,953,289 | C/T | — | benign |
| rs115691165 | 2:176,957,201 | G/C | — | benign |
| rs113143979 | 2:176,957,230 | T/A | — | benign |
| rs72923424 | 2:176,957,519 | C/A | — | likely benign |
| rs144577020 | 2:176,957,580 | G/C | — | benign |
| rs1353221462 | 2:176,957,624 | C/A | — | uncertain significance |
| rs536639583 | 2:176,957,650 | G/C | missense variant | pathogenic |
| rs555136684 | 2:176,957,659 | C/T | — | likely benign |
| rs2105378106 | 2:176,957,674 | C/G | — | uncertain significance |
| rs1351023304 | 2:176,957,735 | G/C | — | uncertain significance |
| rs1689346636 | 2:176,957,743 | G/T | — | uncertain significance |
| rs757175860 | 2:176,957,753 | C/T | — | conflicting classifications of pathogenicity |
| rs1182919667 | 2:176,957,776 | A/T | — | uncertain significance |
| rs1443225761 | 2:176,957,782 | G/C | — | uncertain significance |
| rs1689347619 | 2:176,957,785 | G/A | — | uncertain significance |
| rs755283984 | 2:176,957,788 | C/T | — | uncertain significance |
| rs760168666 | 2:176,957,820 | G/C | — | uncertain significance |
| rs2518053 | 2:176,957,822 | G/A | — | benign |
| rs544449825 | 2:176,957,835 | G/A | — | uncertain significance |
| rs777926146 | 2:176,957,859 | G/A | — | uncertain significance |
| rs139995491 | 2:176,957,878 | C/G | — | uncertain significance |
| rs772479524 | 2:176,957,885 | G/A | — | benign |
| rs562638200 | 2:176,957,908 | C/T | — | uncertain significance |
| rs143487752 | 2:176,957,914 | C/G | — | uncertain significance |
| rs373546423 | 2:176,957,915 | G/T | — | benign |
| rs200514497 | 2:176,957,932 | A/C | — | likely benign |
| rs878854343 | 2:176,957,941 | — | — | pathogenic |
| rs559843297 | 2:176,957,973 | C/T | — | uncertain significance |
| rs905129609 | 2:176,957,977 | C/A | — | uncertain significance |
| rs750412684 | 2:176,957,989 | C/A | — | uncertain significance |
| rs2468152785 | 2:176,958,007 | A/G | — | uncertain significance |
| rs847195 | 2:176,958,011 | C/T | — | benign |
| rs1018548542 | 2:176,958,067 | C/T | — | uncertain significance |
| rs2105378715 | 2:176,958,084 | C/T | — | uncertain significance |
| rs371806521 | 2:176,958,092 | G/T | — | likely benign |
| rs200067774 | 2:176,958,118 | A/G | — | conflicting classifications of pathogenicity |
| rs778978474 | 2:176,958,125 | C/A | — | uncertain significance |
| rs1221715617 | 2:176,958,131 | A/G | — | uncertain significance |
| rs1689359681 | 2:176,958,154 | C/T | — | uncertain significance |
| rs148979353 | 2:176,958,159 | A/G | — | likely benign |
| rs1431472260 | 2:176,958,178 | C/G | — | uncertain significance |
| rs1409930133 | 2:176,958,225 | G/A | — | uncertain significance |
| rs746854273 | 2:176,958,231 | G/A | — | uncertain significance |
| rs147720746 | 2:176,958,235 | A/G | — | benign |
| rs2105379098 | 2:176,958,241 | A/T | — | uncertain significance |
| rs367674921 | 2:176,958,292 | C/G | — | uncertain significance |
| rs121912541 | 2:176,958,301 | G/T | missense variant | pathogenic |
| rs577016423 | 2:176,958,304 | A/G | — | uncertain significance |
| rs1689365853 | 2:176,958,327 | G/C | — | uncertain significance |
| rs878854400 | 2:176,958,360 | C/T | stop gained | pathogenic |
| rs1434257746 | 2:176,958,362 | G/C | — | uncertain significance |
| rs2468153967 | 2:176,958,399 | G/A | — | uncertain significance |
| rs886037831 | 2:176,958,400 | G/A | — | pathogenic |
| rs79645162 | 2:176,958,450 | G/T | — | likely benign |
| rs847194 | 2:176,958,701 | A/C | — | benign |
| rs72923425 | 2:176,958,962 | T/C | — | benign |
| rs847193 | 2:176,959,008 | A/G | — | benign |
| rs847192 | 2:176,959,079 | G/A | — | benign |
| rs764838478 | 2:176,959,206 | — | — | pathogenic |
| rs2468155688 | 2:176,959,231 | G/A | — | uncertain significance |
| rs769084692 | 2:176,959,233 | C/T | — | likely benign |
| rs199982017 | 2:176,959,239 | C/T | — | likely benign |
| rs200750564 | 2:176,959,246 | C/T | stop gained | pathogenic |
| rs878854344 | 2:176,959,260 | — | — | pathogenic |
| rs2105379819 | 2:176,959,285 | C/A | — | uncertain significance |
| rs2468155815 | 2:176,959,310 | A/G | — | uncertain significance |
| rs1553517346 | 2:176,959,338 | C/G | — | uncertain significance |
| rs28933082 | 2:176,959,342 | C/T | missense variant | pathogenic |
| rs879255265 | 2:176,959,343 | G/A | missense variant | pathogenic |
| rs1205745904 | 2:176,959,348 | C/T | — | uncertain significance |
| rs770226826 | 2:176,959,349 | G/A | — | uncertain significance |
| rs1301927745 | 2:176,959,363 | A/C | — | uncertain significance |
| rs1432063993 | 2:176,959,364 | C/G | — | likely pathogenic |
| rs28928892 | 2:176,959,373 | C/G | missense variant | pathogenic |
| rs2105379907 | 2:176,959,378 | A/G | — | uncertain significance |
| rs28928891 | 2:176,959,390 | A/C | missense variant | pathogenic |
| rs875989842 | 2:176,959,399 | C/A | missense variant | pathogenic |
| rs104893635 | 2:176,959,400 | A/G | missense variant | pathogenic |
| rs369216922 | 2:176,959,431 | C/T | — | likely benign |
| rs761679301 | 2:176,959,440 | C/T | — | likely benign |
| rs72923426 | 2:176,959,769 | C/T | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.