PITX1
paired like homeodomain 1
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 are involved in organ development and left-right asymmetry. This protein acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. [provided by RefSeq, Jul 2008]
Known Variants74 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1131614 | 5:134,364,415 | G/A | — | benign |
| rs1752396994 | 5:134,364,474 | T/C | — | uncertain significance |
| rs2479667020 | 5:134,364,480 | A/G | — | uncertain significance |
| rs545789577 | 5:134,364,487 | C/A | — | likely benign |
| rs535075716 | 5:134,364,488 | G/C | — | uncertain significance |
| rs1312123736 | 5:134,364,491 | T/C | — | uncertain significance |
| rs775077362 | 5:134,364,499 | C/T | — | likely benign |
| rs2479667084 | 5:134,364,500 | G/A | — | uncertain significance |
| rs2479667150 | 5:134,364,515 | A/C | — | uncertain significance |
| rs479632 | 5:134,364,518 | C/G | missense variant | benign |
| rs769519435 | 5:134,364,557 | C/A | — | uncertain significance |
| rs1013032115 | 5:134,364,590 | C/T | — | uncertain significance |
| rs546911382 | 5:134,364,607 | C/G | — | likely benign |
| rs1299866342 | 5:134,364,620 | C/A | — | uncertain significance |
| rs141612135 | 5:134,364,621 | C/A | — | conflicting classifications of pathogenicity |
| rs764013997 | 5:134,364,626 | G/A | — | uncertain significance |
| rs1561470713 | 5:134,364,703 | C/T | — | uncertain significance |
| rs746291345 | 5:134,364,720 | C/T | — | uncertain significance |
| rs769968771 | 5:134,364,723 | G/A | — | uncertain significance |
| rs1240871076 | 5:134,364,728 | A/G | — | uncertain significance |
| rs1752403312 | 5:134,364,731 | C/A | — | uncertain significance |
| rs943518762 | 5:134,364,743 | G/T | — | uncertain significance |
| rs2149559564 | 5:134,364,757 | G/A | — | likely benign |
| rs146204449 | 5:134,364,763 | G/C | — | benign |
| rs138042194 | 5:134,364,777 | T/C | — | uncertain significance |
| rs2479668296 | 5:134,364,851 | C/A | — | uncertain significance |
| rs774275193 | 5:134,364,858 | C/A | — | uncertain significance |
| rs1212664689 | 5:134,364,863 | C/G | — | uncertain significance |
| rs2479668342 | 5:134,364,866 | T/C | — | uncertain significance |
| rs773259804 | 5:134,364,888 | C/T | — | uncertain significance |
| rs1174655970 | 5:134,364,889 | G/A | — | likely benign |
| rs370433085 | 5:134,364,901 | G/C | — | conflicting classifications of pathogenicity |
| rs1752407104 | 5:134,364,920 | C/T | — | uncertain significance |
| rs1277812715 | 5:134,364,925 | C/G | — | uncertain significance |
| rs1265370549 | 5:134,364,929 | G/T | — | uncertain significance |
| rs2479668617 | 5:134,364,950 | A/G | — | uncertain significance |
| rs2479668689 | 5:134,364,992 | C/T | — | uncertain significance |
| rs371250970 | 5:134,364,993 | G/T | — | likely benign |
| rs1131611 | 5:134,364,996 | G/T | — | benign |
| rs794727495 | 5:134,364,998 | T/G | — | uncertain significance |
| rs1752408604 | 5:134,365,000 | C/A | — | likely pathogenic |
| rs1752408637 | 5:134,365,002 | T/G | — | likely pathogenic |
| rs779263896 | 5:134,365,022 | G/A | — | likely benign |
| rs10056994 | 5:134,365,070 | C/T | — | benign |
| rs474853 | 5:134,365,091 | T/C | — | benign |
| rs3805663 | 5:134,366,200 | A/G | regulatory region variant | — |
| rs10041469 | 5:134,366,873 | T/G | — | benign |
| rs2149560656 | 5:134,366,970 | A/T | — | uncertain significance |
| rs121909109 | 5:134,366,980 | C/T | missense variant | pathogenic |
| rs112172425 | 5:134,366,981 | G/A | — | benign |
| rs961878768 | 5:134,366,984 | G/T | — | likely benign |
| rs200888898 | 5:134,367,106 | T/G | — | uncertain significance |
| rs201133610 | 5:134,367,117 | G/T | — | uncertain significance |
| rs758752422 | 5:134,367,142 | C/G | — | uncertain significance |
| rs775734536 | 5:134,367,156 | C/T | — | uncertain significance |
| rs1192736152 | 5:134,367,189 | C/A | — | uncertain significance |
| rs779923896 | 5:134,367,190 | G/T | — | uncertain significance |
| rs1057523765 | 5:134,367,200 | T/C | — | pathogenic |
| rs1032270240 | 5:134,367,214 | C/G | — | likely benign |
| rs11959243 | 5:134,367,329 | A/G | — | benign |
| rs11959298 | 5:134,367,540 | A/G | regulatory region variant | — |
| rs6872664 | 5:134,367,598 | C/T | regulatory region variant | — |
| rs6596189 | 5:134,368,169 | C/T | upstream gene variant | — |
| rs72800397 | 5:134,369,258 | G/A | — | benign |
| rs777634577 | 5:134,369,414 | G/A | — | uncertain significance |
| rs780516973 | 5:134,369,433 | C/A | — | uncertain significance |
| rs2149562886 | 5:134,369,483 | G/A | — | uncertain significance |
| rs2479681184 | 5:134,369,493 | T/C | — | uncertain significance |
| rs2479681197 | 5:134,369,495 | T/G | — | uncertain significance |
| rs752568337 | 5:134,369,497 | A/G | — | likely benign |
| rs2479681264 | 5:134,369,505 | G/A | — | uncertain significance |
| rs1384692401 | 5:134,369,536 | C/T | — | likely benign |
| rs113986847 | 5:134,369,792 | C/A | — | benign |
| rs111225899 | 5:134,370,181 | C/T | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.