HNF1A
HNF1 homeobox A
Summary
The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result in the appearance of hepatic adenomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
Known Variants690 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs55931441 | 12:121,415,209 | G/A | upstream gene variant | — |
| rs919294498 | 12:121,416,005 | G/A | — | uncertain significance |
| rs3809315 | 12:121,416,045 | C/T | — | likely benign |
| rs1039479235 | 12:121,416,105 | C/T | — | conflicting classifications of pathogenicity |
| rs77774709 | 12:121,416,172 | C/T | — | likely benign |
| rs76729898 | 12:121,416,225 | G/A | — | likely benign |
| rs534474388 | 12:121,416,281 | T/C | — | uncertain significance |
| rs2135818764 | 12:121,416,285 | G/A | — | uncertain significance |
| rs2135818776 | 12:121,416,289 | A/C | — | pathogenic |
| rs2499971947 | 12:121,416,290 | A/G | — | uncertain significance |
| rs1876057794 | 12:121,416,296 | A/G | — | uncertain significance |
| rs756136537 | 12:121,416,314 | A/G | — | uncertain significance |
| rs1024131753 | 12:121,416,354 | T/C | — | uncertain significance |
| rs2499972059 | 12:121,416,357 | A/G | — | uncertain significance |
| rs970766228 | 12:121,416,385 | C/T | — | uncertain significance |
| rs980850048 | 12:121,416,391 | G/A | — | uncertain significance |
| rs1482912375 | 12:121,416,424 | C/A | — | uncertain significance |
| rs770577871 | 12:121,416,444 | T/G | regulatory region variant | — |
| rs563304627 | 12:121,416,448 | G/A | regulatory region variant | uncertain significance |
| rs776978662 | 12:121,416,449 | G/A | — | likely benign |
| rs576862555 | 12:121,416,476 | T/G | — | conflicting classifications of pathogenicity |
| rs767550584 | 12:121,416,483 | T/C | — | conflicting classifications of pathogenicity |
| rs753567412 | 12:121,416,510 | C/G | — | uncertain significance |
| rs778674831 | 12:121,416,511 | G/A | — | uncertain significance |
| rs376961226 | 12:121,416,543 | G/A | — | likely benign |
| rs779387337 | 12:121,416,566 | C/T | — | uncertain significance |
| rs370979090 | 12:121,416,567 | G/A | — | uncertain significance |
| rs561269721 | 12:121,416,568 | A/G | — | conflicting classifications of pathogenicity |
| rs193922592 | 12:121,416,572 | A/T | missense variant | pathogenic |
| rs2135819325 | 12:121,416,573 | T/C | — | pathogenic |
| rs1876080206 | 12:121,416,575 | G/A | — | uncertain significance |
| rs2499972812 | 12:121,416,584 | C/T | — | likely benign |
| rs188016232 | 12:121,416,585 | T/G | — | uncertain significance |
| rs2135819349 | 12:121,416,587 | A/T | — | likely pathogenic |
| rs2135819354 | 12:121,416,588 | G/A | — | pathogenic |
| rs1566092307 | 12:121,416,590 | C/T | — | pathogenic |
| rs2135819378 | 12:121,416,593 | C/A | — | uncertain significance |
| rs2135819387 | 12:121,416,596 | C/T | — | pathogenic |
| rs1876081310 | 12:121,416,597 | A/T | — | likely pathogenic |
| rs2135819400 | 12:121,416,599 | A/C | — | likely pathogenic |
| rs774637975 | 12:121,416,600 | C/T | — | uncertain significance |
| rs746020457 | 12:121,416,601 | G/A | — | likely benign |
| rs1275805852 | 12:121,416,605 | C/G | — | likely pathogenic |
| rs2135819422 | 12:121,416,606 | T/G | — | likely pathogenic |
| rs772214801 | 12:121,416,612 | C/T | — | uncertain significance |
| rs775391034 | 12:121,416,613 | G/A | — | benign |
| rs1265717222 | 12:121,416,614 | G/T | — | conflicting classifications of pathogenicity |
| rs2135819440 | 12:121,416,615 | C/T | — | uncertain significance |
| rs2135819447 | 12:121,416,617 | C/G | — | uncertain significance |
| rs2135819448 | 12:121,416,618 | T/C | — | uncertain significance |
| rs1876083246 | 12:121,416,620 | C/G | — | uncertain significance |
| rs1480672278 | 12:121,416,621 | T/A | — | uncertain significance |
| rs1169289 | 12:121,416,622 | C/G | — | conflicting classifications of pathogenicity |
| rs1876084046 | 12:121,416,623 | G/T | — | pathogenic |
| rs1064793150 | 12:121,416,626 | T/G | missense variant | pathogenic |
| rs1876084584 | 12:121,416,627 | C/T | — | uncertain significance |
| rs1249563793 | 12:121,416,629 | G/A | — | pathogenic |
| rs1566092362 | 12:121,416,630 | G/T | — | likely pathogenic |
| rs1449504165 | 12:121,416,631 | G/C | — | uncertain significance |
| rs1197993524 | 12:121,416,634 | G/T | — | likely benign |
| rs764174318 | 12:121,416,637 | C/G | — | uncertain significance |
| rs587778394 | 12:121,416,644 | G/A | — | uncertain significance |
| rs2135819552 | 12:121,416,648 | T/C | — | likely pathogenic |
| rs1169288 | 12:121,416,650 | A/C | missense variant | risk factor |
| rs2135819576 | 12:121,416,651 | T/C | — | uncertain significance |
| rs2135819583 | 12:121,416,653 | C/T | — | likely pathogenic |
| rs1876087643 | 12:121,416,656 | G/C | — | uncertain significance |
| rs1593046333 | 12:121,416,658 | A/G | — | likely benign |
| rs137853247 | 12:121,416,663 | G/A | missense variant | pathogenic |
| rs1388926124 | 12:121,416,665 | G/T | — | pathogenic |
| rs1001854457 | 12:121,416,669 | C/T | — | likely pathogenic |
| rs538619966 | 12:121,416,670 | G/A | — | conflicting classifications of pathogenicity |
| rs139742280 | 12:121,416,671 | G/A | — | uncertain significance |
| rs2135819670 | 12:121,416,692 | G/T | — | pathogenic |
| rs1261968643 | 12:121,416,696 | G/A | — | uncertain significance |
| rs778321377 | 12:121,416,697 | C/T | — | likely benign |
| rs749730441 | 12:121,416,698 | C/A | — | uncertain significance |
| rs779098731 | 12:121,416,703 | G/A | — | likely benign |
| rs2135819731 | 12:121,416,708 | A/C | — | uncertain significance |
| rs373180062 | 12:121,416,710 | G/C | — | uncertain significance |
| rs1391743259 | 12:121,416,711 | G/A | — | uncertain significance |
| rs772222326 | 12:121,416,713 | G/A | — | likely benign |
| rs780298807 | 12:121,416,717 | C/A | — | likely pathogenic |
| rs193922583 | 12:121,416,721 | C/A | — | pathogenic |
| rs776710848 | 12:121,416,723 | G/T | — | uncertain significance |
| rs761779651 | 12:121,416,724 | C/T | — | likely benign |
| rs142318174 | 12:121,416,726 | G/C | — | likely benign |
| rs150195625 | 12:121,416,727 | C/T | — | likely benign |
| rs766956862 | 12:121,416,731 | C/T | — | pathogenic |
| rs2499973550 | 12:121,416,737 | G/T | — | pathogenic |
| rs193922588 | 12:121,416,740 | — | — | pathogenic |
| rs1251482432 | 12:121,416,752 | C/T | — | uncertain significance |
| rs377129682 | 12:121,416,756 | A/G | — | benign |
| rs2135819938 | 12:121,416,765 | G/A | — | uncertain significance |
| rs779442858 | 12:121,416,773 | C/T | — | uncertain significance |
| rs188085301 | 12:121,416,774 | G/A | — | uncertain significance |
| rs750801469 | 12:121,416,775 | G/A | — | likely benign |
| rs2499973790 | 12:121,416,776 | G/A | — | uncertain significance |
| rs758774357 | 12:121,416,777 | G/A | — | uncertain significance |
| rs146686581 | 12:121,416,781 | C/T | — | likely benign |
Showing 100 of 690 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.