DMRT1
doublesex and mab-3 related transcription factor 1
Summary
This gene is found in a cluster with two other members of the gene family, having in common a zinc finger-like DNA-binding motif (DM domain). The DM domain is an ancient, conserved component of the vertebrate sex-determining pathway that is also a key regulator of male development in flies and nematodes. This gene exhibits a gonad-specific and sexually dimorphic expression pattern. Defective testicular development and XY feminization occur when this gene is hemizygous. [provided by RefSeq, Jul 2008]
Known Variants97 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs912062 | 9:841,152 | C/G | — | — |
| rs912061 | 9:841,424 | G/C | — | benign |
| rs144122237 | 9:841,785 | C/T | regulatory region variant | — |
| rs3739584 | 9:841,825 | C/T | — | benign |
| rs139583942 | 9:841,866 | C/T | — | uncertain significance |
| rs773825242 | 9:841,914 | G/A | — | uncertain significance |
| rs761280548 | 9:841,959 | G/A | — | uncertain significance |
| rs3739583 | 9:841,971 | T/A | — | benign |
| rs921657610 | 9:842,011 | C/G | — | uncertain significance |
| rs892845295 | 9:842,031 | G/T | — | uncertain significance |
| rs564444409 | 9:842,032 | C/G | — | uncertain significance |
| rs113956859 | 9:842,033 | C/G | — | likely benign |
| rs1171421770 | 9:842,050 | C/G | — | uncertain significance |
| rs376518776 | 9:842,051 | G/A | synonymous variant | benign |
| rs2540997523 | 9:842,082 | C/T | — | uncertain significance |
| rs201947617 | 9:842,146 | A/G | — | likely benign |
| rs778098130 | 9:842,153 | C/G | — | likely pathogenic |
| rs1057519638 | 9:842,170 | G/T | missense variant | pathogenic |
| rs2132532372 | 9:842,182 | T/A | — | likely pathogenic |
| rs148624819 | 9:842,395 | C/T | — | benign |
| rs189459273 | 9:842,568 | C/G | — | likely benign |
| rs7040024 | 9:845,516 | A/T | — | — |
| rs10815834 | 9:845,667 | C/T | intron variant | — |
| rs12115433 | 9:846,742 | G/C | — | benign |
| rs55905583 | 9:846,952 | G/C | — | benign |
| rs200261277 | 9:846,956 | C/T | — | benign |
| rs780597311 | 9:846,966 | C/T | — | likely benign |
| rs149922694 | 9:846,996 | T/A | — | uncertain significance |
| rs2541006365 | 9:847,000 | G/A | — | likely pathogenic |
| rs777256742 | 9:847,009 | A/C | — | uncertain significance |
| rs767829750 | 9:847,030 | C/T | — | likely pathogenic |
| rs2132543133 | 9:847,055 | G/C | — | uncertain significance |
| rs1040884047 | 9:847,057 | A/G | — | uncertain significance |
| rs200595910 | 9:847,072 | C/G | — | uncertain significance |
| rs146767985 | 9:847,109 | A/G | — | likely benign |
| rs201896486 | 9:847,114 | C/A | — | uncertain significance |
| rs142373310 | 9:847,152 | G/A | — | benign |
| rs2273929 | 9:847,208 | G/A | — | benign |
| rs2273930 | 9:847,265 | A/G | — | benign |
| rs1407808 | 9:847,292 | G/T | — | benign |
| rs2273932 | 9:847,365 | C/G | — | benign |
| rs188069766 | 9:855,037 | G/A | intron variant | — |
| rs7863616 | 9:861,220 | T/A | — | — |
| rs755383 | 9:863,635 | C/A | — | — |
| rs73374764 | 9:893,754 | T/C | — | benign |
| rs573886620 | 9:893,917 | C/T | — | uncertain significance |
| rs775752792 | 9:893,967 | G/C | — | uncertain significance |
| rs763347382 | 9:893,975 | C/T | — | uncertain significance |
| rs1817253118 | 9:894,031 | C/G | — | uncertain significance |
| rs16925431 | 9:894,036 | T/C | — | benign |
| rs140506267 | 9:894,044 | A/G | — | conflicting classifications of pathogenicity |
| rs200217569 | 9:894,058 | C/A | — | uncertain significance |
| rs2541076915 | 9:894,078 | G/C | — | uncertain significance |
| rs780304463 | 9:894,090 | T/C | — | likely benign |
| rs1166688024 | 9:894,109 | A/G | — | uncertain significance |
| rs1564230356 | 9:894,126 | C/T | — | likely benign |
| rs986314853 | 9:894,135 | G/A | — | likely benign |
| rs146975077 | 9:894,147 | G/C | — | benign |
| rs1473090333 | 9:894,150 | C/T | — | likely benign |
| rs34946058 | 9:894,156 | C/G | synonymous variant | benign |
| rs2132652504 | 9:894,164 | A/T | — | uncertain significance |
| rs146893441 | 9:894,166 | G/A | — | uncertain significance |
| rs59168737 | 9:894,224 | C/A | — | benign |
| rs1033836 | 9:894,297 | A/C | — | benign |
| rs1033833 | 9:894,409 | A/G | — | benign |
| rs150323657 | 9:901,691 | C/G | regulatory region variant | — |
| rs4740965 | 9:903,461 | G/A | intron variant | — |
| rs10739181 | 9:910,902 | G/A | intron variant | — |
| rs2541113997 | 9:916,751 | T/G | — | likely benign |
| rs202115252 | 9:916,763 | A/G | — | uncertain significance |
| rs376670316 | 9:916,781 | C/G | — | uncertain significance |
| rs2541114250 | 9:916,794 | G/C | — | uncertain significance |
| rs140311439 | 9:916,819 | C/T | — | benign |
| rs141672484 | 9:916,850 | G/A | — | likely benign |
| rs146258506 | 9:916,903 | G/A | — | likely benign |
| rs746758951 | 9:916,907 | G/A | — | uncertain significance |
| rs1004273905 | 9:916,916 | C/G | — | likely benign |
| rs370478672 | 9:916,919 | G/A | — | likely benign |
| rs10123307 | 9:917,015 | T/G | — | benign |
| rs56745021 | 9:917,162 | A/G | — | benign |
| rs9299086 | 9:917,214 | A/G | — | benign |
| rs445398 | 9:954,336 | T/C | intron variant | — |
| rs364477 | 9:955,794 | C/G | — | — |
| rs550637604 | 9:964,080 | T/C | — | — |
| rs74330057 | 9:967,781 | G/T | — | benign |
| rs200423545 | 9:967,959 | T/C | intron variant | — |
| rs757116462 | 9:967,966 | C/G | — | likely benign |
| rs279895 | 9:967,981 | G/C | — | benign |
| rs1410631980 | 9:967,999 | A/G | — | likely pathogenic |
| rs139434590 | 9:968,008 | G/C | — | uncertain significance |
| rs1180993536 | 9:968,019 | G/A | — | likely benign |
| rs200263288 | 9:968,044 | A/G | — | uncertain significance |
| rs35846503 | 9:968,054 | A/G | — | benign |
| rs776888445 | 9:968,094 | G/T | — | uncertain significance |
| rs138222786 | 9:968,114 | C/G | — | uncertain significance |
| rs2488485251 | 9:968,119 | G/A | — | uncertain significance |
| rs279894 | 9:968,334 | G/A | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.