HOXD1
homeobox D1
Summary
This gene is a member of the Antp homeobox family and encodes a protein with a homeobox DNA-binding domain. This nuclear protein functions as a sequence-specific transcription factor that is involved in differentiation and limb development. Mutations in this gene have been associated with severe developmental defects on the anterior-posterior (a-p) limb axis. [provided by RefSeq, Jul 2008]
Known Variants21 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1020706617 | 2:177,053,720 | C/T | — | uncertain significance |
| rs747439287 | 2:177,053,791 | G/A | — | uncertain significance |
| rs1304440820 | 2:177,053,816 | C/A | — | uncertain significance |
| rs1233303399 | 2:177,053,857 | G/T | — | uncertain significance |
| rs760260197 | 2:177,053,864 | G/T | — | uncertain significance |
| rs2468316847 | 2:177,053,876 | A/G | — | uncertain significance |
| rs757006539 | 2:177,053,880 | C/G | — | uncertain significance |
| rs1346446468 | 2:177,053,911 | G/A | — | uncertain significance |
| rs541833039 | 2:177,053,971 | C/T | — | uncertain significance |
| rs371113016 | 2:177,053,981 | A/G | — | uncertain significance |
| rs753173286 | 2:177,053,987 | A/C | — | uncertain significance |
| rs757359623 | 2:177,054,001 | G/C | — | uncertain significance |
| rs150112597 | 2:177,054,181 | G/C | missense variant | — |
| rs761589773 | 2:177,054,553 | G/T | — | uncertain significance |
| rs144229443 | 2:177,054,635 | A/G | — | uncertain significance |
| rs2468318626 | 2:177,054,639 | G/C | — | uncertain significance |
| rs370435803 | 2:177,054,682 | C/T | — | uncertain significance |
| rs181672079 | 2:177,054,685 | C/G | — | uncertain significance |
| rs2468318980 | 2:177,054,803 | C/T | — | uncertain significance |
| rs753497224 | 2:177,054,814 | C/A | — | uncertain significance |
| rs1405369942 | 2:177,054,834 | C/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.