HOXA11
homeobox A11
Summary
In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. This gene is involved in the regulation of uterine development and is required for female fertility. Mutations in this gene can cause radio-ulnar synostosis with amegakaryocytic thrombocytopenia. [provided by RefSeq, Jul 2008]
Known Variants49 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs17427861 | 7:27,222,409 | A/G | — | likely benign |
| rs2534803364 | 7:27,222,476 | A/C | — | likely pathogenic |
| rs115808703 | 7:27,222,517 | G/A | — | likely benign |
| rs2534803453 | 7:27,222,538 | T/A | — | uncertain significance |
| rs2534803515 | 7:27,222,582 | C/T | — | likely pathogenic |
| rs1783794878 | 7:27,222,642 | G/T | — | uncertain significance |
| rs377202514 | 7:27,222,643 | G/T | — | likely benign |
| rs7801581 | 7:27,223,771 | T/C | — | benign |
| rs1383337769 | 7:27,224,061 | C/A | — | uncertain significance |
| rs771859968 | 7:27,224,085 | C/G | — | uncertain significance |
| rs1085307723 | 7:27,224,139 | C/T | — | uncertain significance |
| rs553990793 | 7:27,224,155 | C/A | — | likely benign |
| rs1165767194 | 7:27,224,160 | C/G | — | uncertain significance |
| rs991270582 | 7:27,224,169 | C/A | — | uncertain significance |
| rs931000353 | 7:27,224,204 | G/C | — | uncertain significance |
| rs2534806491 | 7:27,224,207 | G/T | — | uncertain significance |
| rs2534806501 | 7:27,224,210 | C/T | — | uncertain significance |
| rs908837065 | 7:27,224,232 | C/T | — | uncertain significance |
| rs562527955 | 7:27,224,245 | C/A | — | likely benign |
| rs775223385 | 7:27,224,252 | G/T | — | likely benign |
| rs1266532859 | 7:27,224,255 | G/T | — | uncertain significance |
| rs767953300 | 7:27,224,256 | G/A | — | uncertain significance |
| rs1263450649 | 7:27,224,261 | C/A | — | uncertain significance |
| rs1783831246 | 7:27,224,270 | G/T | — | uncertain significance |
| rs893792932 | 7:27,224,275 | C/G | — | benign |
| rs776561756 | 7:27,224,305 | G/T | — | uncertain significance |
| rs1783832681 | 7:27,224,313 | G/T | — | uncertain significance |
| rs143812636 | 7:27,224,368 | C/G | — | conflicting classifications of pathogenicity |
| rs2534806908 | 7:27,224,373 | C/T | — | uncertain significance |
| rs759995027 | 7:27,224,391 | T/G | — | uncertain significance |
| rs2115462873 | 7:27,224,411 | G/A | — | uncertain significance |
| rs372937744 | 7:27,224,416 | G/C | — | uncertain significance |
| rs2115462891 | 7:27,224,424 | C/T | — | uncertain significance |
| rs926107951 | 7:27,224,432 | G/A | — | uncertain significance |
| rs776902959 | 7:27,224,436 | T/C | — | uncertain significance |
| rs780070206 | 7:27,224,460 | C/T | — | uncertain significance |
| rs771674623 | 7:27,224,469 | C/T | — | likely benign |
| rs200384070 | 7:27,224,478 | C/T | — | uncertain significance |
| rs778467438 | 7:27,224,516 | T/C | — | uncertain significance |
| rs139102218 | 7:27,224,526 | C/T | — | benign |
| rs201762092 | 7:27,224,528 | A/G | — | likely benign |
| rs749763184 | 7:27,224,541 | G/T | — | uncertain significance |
| rs769200094 | 7:27,224,542 | G/T | — | uncertain significance |
| rs2115463165 | 7:27,224,595 | C/T | — | uncertain significance |
| rs150569316 | 7:27,224,612 | A/T | — | uncertain significance |
| rs1262283120 | 7:27,224,615 | T/C | — | uncertain significance |
| rs373928992 | 7:27,224,640 | G/C | — | uncertain significance |
| rs752525999 | 7:27,224,754 | C/G | — | uncertain significance |
| rs17437495 | 7:27,224,963 | C/T | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.