PRDM6
PR/SET domain 6
Summary
The protein encoded by this gene is a transcriptional repressor and a member of the PRDM family. Family members contain a PR domain and multiple zinc-finger domains. The encoded protein is involved in regulation of vascular smooth muscle cells (VSMC) contractile proteins. Mutations in this gene result in patent ductus arteriosus 3 (PDA3). [provided by RefSeq, Apr 2017]
Known Variants77 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1763777007 | 5:122,425,785 | C/T | — | uncertain significance |
| rs1037630475 | 5:122,425,794 | C/T | — | uncertain significance |
| rs747211874 | 5:122,425,807 | G/C | — | uncertain significance |
| rs868050585 | 5:122,425,821 | A/G | — | likely benign |
| rs1218441375 | 5:122,425,830 | G/C | — | uncertain significance |
| rs13182369 | 5:122,425,832 | G/T | — | benign |
| rs1010829654 | 5:122,425,834 | G/A | — | uncertain significance |
| rs765186274 | 5:122,425,837 | T/C | — | likely benign |
| rs576568262 | 5:122,425,841 | G/C | — | benign |
| rs993004405 | 5:122,425,866 | C/A | — | uncertain significance |
| rs915624211 | 5:122,425,867 | C/T | — | uncertain significance |
| rs2480089855 | 5:122,425,870 | C/T | — | uncertain significance |
| rs1198720809 | 5:122,425,875 | C/T | — | uncertain significance |
| rs537520863 | 5:122,425,877 | C/G | — | likely benign |
| rs1159380796 | 5:122,425,882 | C/G | — | uncertain significance |
| rs574108881 | 5:122,425,884 | C/T | — | uncertain significance |
| rs781554858 | 5:122,425,908 | G/A | — | uncertain significance |
| rs1451451631 | 5:122,425,924 | G/T | — | uncertain significance |
| rs1444167382 | 5:122,425,935 | C/T | — | uncertain significance |
| rs1031561952 | 5:122,425,942 | C/G | — | uncertain significance |
| rs572367200 | 5:122,425,948 | C/T | — | uncertain significance |
| rs1199403376 | 5:122,425,950 | T/A | — | uncertain significance |
| rs1043760544 | 5:122,426,024 | G/A | — | likely benign |
| rs753024723 | 5:122,426,058 | C/T | — | uncertain significance |
| rs780374417 | 5:122,426,110 | C/T | — | uncertain significance |
| rs1389026967 | 5:122,426,127 | G/C | — | uncertain significance |
| rs934285754 | 5:122,426,137 | C/G | — | uncertain significance |
| rs866870301 | 5:122,426,155 | A/T | — | uncertain significance |
| rs1763805005 | 5:122,426,167 | G/C | — | uncertain significance |
| rs771504043 | 5:122,426,168 | T/C | — | likely benign |
| rs772739666 | 5:122,426,170 | G/A | — | uncertain significance |
| rs1290586557 | 5:122,426,172 | G/C | — | uncertain significance |
| rs1056506862 | 5:122,426,181 | G/C | — | uncertain significance |
| rs750511733 | 5:122,426,267 | C/G | — | uncertain significance |
| rs961194860 | 5:122,426,286 | A/G | — | uncertain significance |
| rs768108787 | 5:122,435,415 | G/T | — | uncertain significance |
| rs1179356590 | 5:122,435,450 | G/A | — | uncertain significance |
| rs777339067 | 5:122,435,456 | C/T | — | uncertain significance |
| rs1207045077 | 5:122,435,469 | C/G | — | uncertain significance |
| rs1764056491 | 5:122,435,497 | G/T | — | uncertain significance |
| rs879255279 | 5:122,435,544 | G/C | missense variant | pathogenic |
| rs1008058 | 5:122,435,627 | A/G | — | benign |
| rs337125 | 5:122,438,902 | T/C | intron variant | — |
| rs555625 | 5:122,453,145 | C/A | — | — |
| rs186749 | 5:122,454,305 | A/G | intron variant | — |
| rs17149944 | 5:122,456,098 | G/A | regulatory region variant | — |
| rs460763 | 5:122,458,355 | C/T | intron variant | — |
| rs426905 | 5:122,460,786 | G/T | — | — |
| rs450354 | 5:122,465,154 | T/A | — | — |
| rs386484 | 5:122,465,222 | G/C | — | — |
| rs1422278 | 5:122,467,417 | G/T | regulatory region variant | — |
| rs1422279 | 5:122,470,209 | C/T | intron variant | — |
| rs589928 | 5:122,480,317 | C/G | intron variant | — |
| rs6886162 | 5:122,482,973 | A/G | — | — |
| rs1437767202 | 5:122,491,578 | A/G | — | uncertain significance |
| rs753973301 | 5:122,491,603 | A/G | — | uncertain significance |
| rs1765488340 | 5:122,491,671 | T/C | — | uncertain significance |
| rs2479359120 | 5:122,491,684 | A/C | — | uncertain significance |
| rs1333586171 | 5:122,495,210 | C/T | — | uncertain significance |
| rs531264004 | 5:122,495,211 | G/A | — | likely benign |
| rs188389734 | 5:122,495,225 | G/A | — | uncertain significance |
| rs202224762 | 5:122,495,236 | G/A | — | uncertain significance |
| rs335214 | 5:122,499,967 | A/G | regulatory region variant | — |
| rs10067127 | 5:122,501,918 | T/C | intron variant | — |
| rs147025859 | 5:122,506,537 | G/A | — | uncertain significance |
| rs138406807 | 5:122,506,561 | G/A | — | benign |
| rs369520615 | 5:122,506,580 | C/T | — | uncertain significance |
| rs1415345070 | 5:122,506,621 | A/G | — | uncertain significance |
| rs879253872 | 5:122,506,691 | A/G | missense variant | pathogenic |
| rs200261402 | 5:122,515,853 | C/T | — | likely benign |
| rs2479414106 | 5:122,515,875 | T/C | — | uncertain significance |
| rs1580543367 | 5:122,515,986 | A/G | — | uncertain significance |
| rs879255278 | 5:122,515,990 | G/A | missense variant | pathogenic |
| rs538574724 | 5:122,522,788 | A/C | — | likely benign |
| rs373228627 | 5:122,522,801 | G/C | — | uncertain significance |
| rs74354350 | 5:122,522,870 | G/C | — | uncertain significance |
| rs1470510188 | 5:122,522,888 | T/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.