MAMLD1
mastermind like domain containing 1
Summary
This gene encodes a mastermind-like domain containing protein. This protein may function as a transcriptional co-activator. Mutations in this gene are the cause of X-linked hypospadias type 2. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]
Known Variants94 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1983610 | X:149,545,747 | C/G | intron variant | — |
| rs1557404746 | X:149,613,802 | G/A | — | uncertain significance |
| rs370838699 | X:149,613,839 | G/A | — | uncertain significance |
| rs2124600743 | X:149,613,897 | G/C | — | likely benign |
| rs16996606 | X:149,631,097 | A/G | — | benign |
| rs2521535823 | X:149,631,119 | A/T | — | likely benign |
| rs2521535918 | X:149,631,122 | A/T | — | likely benign |
| rs17252936 | X:149,635,295 | A/T | — | — |
| rs376737932 | X:149,638,054 | A/G | — | benign |
| rs149710130 | X:149,638,115 | T/A | — | uncertain significance |
| rs148910161 | X:149,638,147 | C/T | — | conflicting classifications of pathogenicity |
| rs201006027 | X:149,638,206 | G/A | — | likely benign |
| rs1135402752 | X:149,638,239 | G/T | — | pathogenic |
| rs782263607 | X:149,638,251 | A/T | — | uncertain significance |
| rs138334535 | X:149,638,296 | A/G | — | likely benign |
| rs781965917 | X:149,638,306 | G/T | — | uncertain significance |
| rs781882571 | X:149,638,350 | G/A | — | likely benign |
| rs142319986 | X:149,638,354 | C/T | — | conflicting classifications of pathogenicity |
| rs782239084 | X:149,638,421 | T/A | — | uncertain significance |
| rs121909493 | X:149,638,434 | G/T | stop gained | pathogenic |
| rs146555522 | X:149,638,450 | C/T | — | benign |
| rs781929866 | X:149,638,451 | G/A | — | benign |
| rs121909494 | X:149,638,653 | C/T | stop gained | pathogenic |
| rs782329782 | X:149,638,688 | C/T | — | likely benign |
| rs138272061 | X:149,638,704 | G/A | — | conflicting classifications of pathogenicity |
| rs782789070 | X:149,638,719 | G/A | — | likely benign |
| rs781882952 | X:149,638,740 | C/G | — | benign |
| rs782497106 | X:149,638,754 | C/T | — | likely benign |
| rs199991297 | X:149,638,757 | C/A | — | benign |
| rs146141590 | X:149,638,771 | C/T | — | benign |
| rs782337449 | X:149,638,777 | C/T | — | uncertain significance |
| rs1557406333 | X:149,638,810 | A/G | — | uncertain significance |
| rs782323692 | X:149,638,866 | C/T | — | uncertain significance |
| rs62641609 | X:149,638,886 | C/A | — | benign |
| rs41313406 | X:149,638,920 | C/T | — | benign |
| rs1181385258 | X:149,638,955 | G/A | — | uncertain significance |
| rs1229699712 | X:149,638,993 | C/T | — | uncertain significance |
| rs370173998 | X:149,638,996 | C/T | — | uncertain significance |
| rs372862985 | X:149,639,014 | G/T | — | uncertain significance |
| rs913468414 | X:149,639,020 | C/T | — | uncertain significance |
| rs782758211 | X:149,639,021 | G/A | — | benign |
| rs782390238 | X:149,639,101 | C/T | — | benign |
| rs148647178 | X:149,639,116 | A/G | — | likely benign |
| rs144862058 | X:149,639,136 | C/T | — | likely benign |
| rs151207889 | X:149,639,165 | A/G | — | conflicting classifications of pathogenicity |
| rs139141454 | X:149,639,184 | C/T | — | likely benign |
| rs782691056 | X:149,639,220 | C/T | — | uncertain significance |
| rs2148300897 | X:149,639,286 | C/T | — | pathogenic |
| rs61740566 | X:149,639,359 | T/C | — | benign |
| rs782428670 | X:149,639,364 | T/C | — | uncertain significance |
| rs782090608 | X:149,639,465 | C/A | — | likely benign |
| rs2521606416 | X:149,639,475 | C/G | — | uncertain significance |
| rs1557406507 | X:149,639,500 | C/T | — | uncertain significance |
| rs1460185195 | X:149,639,501 | G/A | — | uncertain significance |
| rs146443503 | X:149,639,544 | C/T | — | benign |
| rs5969863 | X:149,639,573 | G/A | — | benign |
| rs782063965 | X:149,639,611 | C/T | — | uncertain significance |
| rs142908182 | X:149,639,649 | C/A | — | conflicting classifications of pathogenicity |
| rs367885143 | X:149,639,653 | A/G | — | uncertain significance |
| rs1569564906 | X:149,639,662 | A/C | — | uncertain significance |
| rs1275256722 | X:149,639,663 | G/A | — | likely benign |
| rs782519703 | X:149,639,672 | T/G | — | uncertain significance |
| rs782323826 | X:149,639,682 | C/T | — | uncertain significance |
| rs145175147 | X:149,639,713 | G/A | — | conflicting classifications of pathogenicity |
| rs782372263 | X:149,639,720 | G/A | — | benign |
| rs138998068 | X:149,641,993 | G/A | — | benign |
| rs2073043 | X:149,642,019 | A/G | — | benign |
| rs1215333273 | X:149,642,041 | T/C | — | likely benign |
| rs183586370 | X:149,642,073 | T/C | — | benign |
| rs6627558 | X:149,647,248 | T/A | intron variant | — |
| rs6627226 | X:149,652,120 | T/G | regulatory region variant | — |
| rs782330913 | X:149,671,578 | C/T | — | uncertain significance |
| rs782770771 | X:149,671,605 | G/A | — | uncertain significance |
| rs186596666 | X:149,671,615 | G/A | — | likely benign |
| rs782527828 | X:149,671,647 | T/C | — | uncertain significance |
| rs782661439 | X:149,671,660 | C/G | — | benign |
| rs121909495 | X:149,671,679 | C/T | — | pathogenic |
| rs139460988 | X:149,671,723 | C/A | — | benign |
| rs782808215 | X:149,671,730 | G/A | — | uncertain significance |
| rs149281734 | X:149,671,756 | C/T | — | benign |
| rs1461015362 | X:149,671,777 | C/T | — | likely benign |
| rs5970317 | X:149,671,795 | A/T | — | likely benign |
| rs679149 | X:149,674,386 | A/T | intron variant | — |
| rs193920839 | X:149,678,305 | G/T | — | uncertain significance |
| rs147056898 | X:149,680,355 | C/T | — | likely benign |
| rs2521891866 | X:149,680,388 | T/C | — | uncertain significance |
| rs782337643 | X:149,680,417 | G/A | — | likely benign |
| rs782159736 | X:149,680,610 | G/T | — | uncertain significance |
| rs182597797 | X:149,680,710 | G/A | — | likely benign |
| rs1557409204 | X:149,680,715 | C/T | — | likely benign |
| rs782701412 | X:149,680,843 | C/A | — | benign |
| rs927968522 | X:149,680,919 | C/T | — | uncertain significance |
| rs188898368 | X:149,681,090 | A/C | — | likely benign |
| rs2521899599 | X:149,681,129 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.