TBX10
T-box transcription factor 10
Summary
This gene encodes a member of the T-box family of transcription factors. These transcription factors share a DNA-binding domain called the T-box, and play a role in several developmental processes including early embryonic cell fate and organogenesis. The encoded protein is a member of the T-box 1 subfamily. Mutations in this gene are thought to be a cause of isolated cleft lip with or without cleft palate. [provided by RefSeq, Nov 2010]
Known Variants44 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs754716841 | 11:67,399,082 | G/T | — | likely benign |
| rs1016503224 | 11:67,399,091 | G/A | — | likely benign |
| rs779037196 | 11:67,399,132 | G/A | — | likely benign |
| rs199538876 | 11:67,399,179 | T/G | — | benign |
| rs751471550 | 11:67,399,209 | C/T | — | uncertain significance |
| rs369161057 | 11:67,399,296 | G/C | — | uncertain significance |
| rs186569241 | 11:67,399,347 | G/A | — | uncertain significance |
| rs117949580 | 11:67,399,372 | G/A | — | likely benign |
| rs1551884 | 11:67,399,601 | C/A | — | — |
| rs1197694579 | 11:67,399,795 | C/T | — | likely benign |
| rs200673151 | 11:67,399,799 | G/A | — | likely benign |
| rs1855249236 | 11:67,399,810 | C/A | — | uncertain significance |
| rs146079895 | 11:67,399,845 | C/T | — | uncertain significance |
| rs770623718 | 11:67,400,101 | C/A | — | uncertain significance |
| rs2495765410 | 11:67,400,115 | G/T | — | uncertain significance |
| rs554161959 | 11:67,400,123 | C/T | — | uncertain significance |
| rs2495765499 | 11:67,400,143 | T/C | — | uncertain significance |
| rs139191413 | 11:67,400,513 | C/T | — | likely benign |
| rs527312583 | 11:67,400,540 | C/T | — | uncertain significance |
| rs143869780 | 11:67,400,552 | C/T | — | uncertain significance |
| rs140246160 | 11:67,400,563 | G/A | — | likely benign |
| rs12787511 | 11:67,401,635 | G/C | upstream gene variant | — |
| rs117709265 | 11:67,401,660 | G/A | — | likely benign |
| rs1855284613 | 11:67,401,669 | G/C | — | uncertain significance |
| rs151337371 | 11:67,401,721 | C/T | — | uncertain significance |
| rs200089316 | 11:67,401,722 | G/A | — | likely benign |
| rs769289032 | 11:67,401,752 | C/T | — | uncertain significance |
| rs763946525 | 11:67,401,767 | C/T | — | uncertain significance |
| rs2514022 | 11:67,402,113 | C/T | upstream gene variant | — |
| rs775659044 | 11:67,402,330 | C/T | — | uncertain significance |
| rs117056541 | 11:67,402,333 | A/T | — | conflicting classifications of pathogenicity |
| rs148072042 | 11:67,402,374 | G/A | — | uncertain significance |
| rs749320539 | 11:67,402,375 | G/T | — | likely benign |
| rs764930595 | 11:67,402,381 | A/G | — | uncertain significance |
| rs2495771629 | 11:67,402,382 | C/A | — | uncertain significance |
| rs2495772086 | 11:67,402,530 | A/G | — | uncertain significance |
| rs140320420 | 11:67,402,560 | C/T | — | uncertain significance |
| rs779864791 | 11:67,402,561 | G/T | — | uncertain significance |
| rs375222437 | 11:67,402,603 | G/C | — | uncertain significance |
| rs780031766 | 11:67,402,616 | G/C | — | uncertain significance |
| rs2495772490 | 11:67,402,641 | G/A | — | uncertain significance |
| rs766130985 | 11:67,402,687 | G/C | — | uncertain significance |
| rs59223436 | 11:67,402,744 | G/A | — | benign |
| rs73490597 | 11:67,406,927 | C/T | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.