PITX3
paired like homeodomain 3
Summary
This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family act as transcription factors. This protein is involved in lens formation during eye development. Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis and congenital cataracts. [provided by RefSeq, Jul 2008]
Known Variants44 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2133794292 | 10:103,990,272 | C/A | — | likely pathogenic |
| rs769783928 | 10:103,990,407 | T/C | — | uncertain significance |
| rs548475633 | 10:103,990,409 | C/T | — | likely benign |
| rs1564991147 | 10:103,990,418 | G/T | — | likely pathogenic |
| rs1466048901 | 10:103,990,421 | G/A | — | likely benign |
| rs766505330 | 10:103,990,440 | G/A | — | uncertain significance |
| rs148445461 | 10:103,990,477 | C/T | — | conflicting classifications of pathogenicity |
| rs755668294 | 10:103,990,481 | C/T | — | likely benign |
| rs2133794774 | 10:103,990,498 | C/T | — | uncertain significance |
| rs1335065046 | 10:103,990,503 | G/A | — | uncertain significance |
| rs1021921907 | 10:103,990,511 | G/A | — | likely benign |
| rs1473811943 | 10:103,990,518 | C/G | — | uncertain significance |
| rs1377696514 | 10:103,990,519 | C/T | — | uncertain significance |
| rs1057518058 | 10:103,990,534 | G/A | stop gained | pathogenic |
| rs1180535289 | 10:103,990,594 | C/T | — | uncertain significance |
| rs763219900 | 10:103,990,656 | T/G | — | uncertain significance |
| rs1447687897 | 10:103,990,697 | A/C | — | likely benign |
| rs753420596 | 10:103,990,716 | T/C | — | uncertain significance |
| rs1221330179 | 10:103,990,732 | C/A | — | uncertain significance |
| rs556650286 | 10:103,990,735 | G/T | — | uncertain significance |
| rs1209628568 | 10:103,990,739 | C/A | — | likely benign |
| rs1554934124 | 10:103,990,766 | C/A | — | likely benign |
| rs568438692 | 10:103,990,783 | A/G | — | uncertain significance |
| rs1564991469 | 10:103,990,792 | T/A | — | uncertain significance |
| rs781392103 | 10:103,990,869 | G/C | — | likely benign |
| rs112979695 | 10:103,990,990 | G/C | — | likely benign |
| rs114183475 | 10:103,991,203 | G/C | — | benign |
| rs2281983 | 10:103,991,381 | G/T | synonymous variant | likely benign |
| rs759062659 | 10:103,991,397 | C/G | — | uncertain significance |
| rs1248201643 | 10:103,991,432 | C/T | — | likely benign |
| rs2070244293 | 10:103,991,481 | T/C | — | uncertain significance |
| rs568555694 | 10:103,991,485 | T/G | — | uncertain significance |
| rs778341116 | 10:103,991,724 | G/T | — | uncertain significance |
| rs2133799119 | 10:103,991,750 | C/T | — | uncertain significance |
| rs972747798 | 10:103,991,783 | A/T | — | uncertain significance |
| rs367562631 | 10:103,991,796 | A/G | — | uncertain significance |
| rs104894175 | 10:103,991,800 | C/T | missense variant | pathogenic |
| rs753038718 | 10:103,991,804 | G/C | — | uncertain significance |
| rs1376663871 | 10:103,991,806 | G/A | — | uncertain significance |
| rs2070260602 | 10:103,991,824 | A/G | — | uncertain significance |
| rs1854291 | 10:103,992,122 | T/C | — | benign |
| rs140312320 | 10:103,992,418 | G/A | downstream gene variant | — |
| rs4919621 | 10:103,998,671 | A/T | intron variant | — |
| rs117589665 | 10:104,000,008 | A/G | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.