HOXD10
homeobox D10
Summary
This gene is a member of the Abd-B homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox D genes located on chromosome 2. The encoded nuclear protein functions as a sequence-specific transcription factor that is expressed in the developing limb buds and is involved in differentiation and limb development. Mutations in this gene have been associated with Wilm's tumor and congenital vertical talus (also known as "rocker-bottom foot" deformity or congenital convex pes valgus) and/or a foot deformity resembling that seen in Charcot-Marie-Tooth disease. [provided by RefSeq, Jul 2008]
Known Variants64 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7601234 | 2:176,981,343 | G/T | regulatory region variant | — |
| rs781377305 | 2:176,981,552 | C/A | — | uncertain significance |
| rs538359875 | 2:176,981,556 | C/G | — | uncertain significance |
| rs770477761 | 2:176,981,557 | C/G | — | likely benign |
| rs1372303127 | 2:176,981,578 | G/T | — | uncertain significance |
| rs781411063 | 2:176,981,596 | C/T | — | uncertain significance |
| rs752887490 | 2:176,981,648 | C/T | — | uncertain significance |
| rs757662934 | 2:176,981,656 | C/T | — | uncertain significance |
| rs886055157 | 2:176,981,677 | C/T | — | uncertain significance |
| rs749339605 | 2:176,981,686 | A/G | — | uncertain significance |
| rs145541578 | 2:176,981,691 | G/A | — | uncertain significance |
| rs752979258 | 2:176,981,739 | A/G | — | uncertain significance |
| rs1348810562 | 2:176,981,772 | G/A | — | uncertain significance |
| rs1265177378 | 2:176,981,784 | A/G | — | uncertain significance |
| rs2468188560 | 2:176,981,806 | C/T | — | uncertain significance |
| rs374700658 | 2:176,981,827 | G/A | — | conflicting classifications of pathogenicity |
| rs1064797272 | 2:176,981,845 | C/A | — | uncertain significance |
| rs760536872 | 2:176,981,853 | G/A | — | uncertain significance |
| rs765304262 | 2:176,981,902 | G/T | — | uncertain significance |
| rs1689770871 | 2:176,981,917 | A/C | — | uncertain significance |
| rs7604313 | 2:176,981,924 | C/T | — | likely benign |
| rs149038150 | 2:176,981,933 | T/G | — | conflicting classifications of pathogenicity |
| rs375702128 | 2:176,981,981 | C/G | — | uncertain significance |
| rs1222562257 | 2:176,981,990 | C/T | — | likely benign |
| rs141770128 | 2:176,982,026 | T/C | — | likely benign |
| rs775316778 | 2:176,982,070 | C/G | — | uncertain significance |
| rs886055158 | 2:176,982,104 | C/A | — | uncertain significance |
| rs143870330 | 2:176,982,122 | G/A | — | conflicting classifications of pathogenicity |
| rs769981285 | 2:176,982,142 | A/G | — | conflicting classifications of pathogenicity |
| rs749450422 | 2:176,982,147 | C/A | — | uncertain significance |
| rs143111542 | 2:176,982,167 | C/G | — | benign |
| rs148563899 | 2:176,982,180 | G/T | — | uncertain significance |
| rs575171191 | 2:176,982,184 | A/G | — | likely benign |
| rs1237332908 | 2:176,982,195 | A/G | — | uncertain significance |
| rs201752392 | 2:176,982,222 | G/T | — | uncertain significance |
| rs1378675941 | 2:176,982,245 | G/C | — | uncertain significance |
| rs749342247 | 2:176,982,314 | T/G | — | uncertain significance |
| rs114841233 | 2:176,982,325 | A/G | — | benign |
| rs56941395 | 2:176,983,679 | T/C | — | benign |
| rs1028897377 | 2:176,983,689 | C/G | — | uncertain significance |
| rs61740491 | 2:176,983,704 | A/C | — | benign |
| rs755118732 | 2:176,983,722 | T/A | — | uncertain significance |
| rs2468191704 | 2:176,983,807 | C/A | — | uncertain significance |
| rs104893634 | 2:176,983,892 | T/A | missense variant | pathogenic |
| rs33913965 | 2:176,983,923 | G/C | — | benign |
| rs144160937 | 2:176,983,934 | T/C | — | benign |
| rs776443207 | 2:176,983,945 | C/T | — | uncertain significance |
| rs116807022 | 2:176,983,961 | T/C | — | benign |
| rs570165195 | 2:176,983,980 | C/T | — | uncertain significance |
| rs1689824324 | 2:176,983,993 | G/A | — | uncertain significance |
| rs114746583 | 2:176,984,006 | T/G | — | benign |
| rs61070787 | 2:176,984,014 | G/T | — | benign |
| rs558709855 | 2:176,984,035 | G/C | — | uncertain significance |
| rs1008365837 | 2:176,984,042 | G/A | — | uncertain significance |
| rs867143553 | 2:176,984,167 | A/G | — | uncertain significance |
| rs867263804 | 2:176,984,192 | T/A | — | uncertain significance |
| rs76652386 | 2:176,984,194 | A/T | — | uncertain significance |
| rs779201977 | 2:176,984,229 | G/A | — | uncertain significance |
| rs565659273 | 2:176,984,237 | G/A | — | uncertain significance |
| rs150556295 | 2:176,984,238 | G/A | — | benign |
| rs532592274 | 2:176,984,427 | A/T | — | conflicting classifications of pathogenicity |
| rs13403839 | 2:176,984,454 | A/T | — | benign |
| rs72923454 | 2:176,984,544 | T/C | — | benign |
| rs552102680 | 2:176,984,602 | C/T | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.