DMC1
DNA meiotic recombinase 1
Summary
This gene encodes a member of the superfamily of recombinases (also called DNA strand-exchange proteins). Recombinases are important for repairing double-strand DNA breaks during mitosis and meiosis. This protein, which is evolutionarily conserved, is reported to be essential for meiotic homologous recombination and may thus play an important role in generating diversity of genetic information. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
Known Variants19 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2145771075 | 22:38,917,706 | G/T | — | pathogenic |
| rs2518003639 | 22:38,917,715 | G/A | — | uncertain significance |
| rs2518089265 | 22:38,934,328 | C/T | — | uncertain significance |
| rs2518089343 | 22:38,934,345 | G/T | — | uncertain significance |
| rs1425932891 | 22:38,934,368 | C/A | — | uncertain significance |
| rs199821104 | 22:38,934,396 | C/T | — | uncertain significance |
| rs2227914 | 22:38,934,606 | T/C | — | benign |
| rs996254937 | 22:38,935,373 | T/C | — | uncertain significance |
| rs745833596 | 22:38,935,385 | C/T | — | uncertain significance |
| rs5757133 | 22:38,947,835 | C/T | intron variant | — |
| rs2145963298 | 22:38,951,377 | T/C | — | pathogenic |
| rs561542963 | 22:38,951,643 | A/G | — | — |
| rs9622830 | 22:38,954,703 | C/A | — | — |
| rs376990680 | 22:38,958,317 | T/C | — | uncertain significance |
| rs2518243554 | 22:38,962,616 | T/A | — | uncertain significance |
| rs1240171116 | 22:38,962,630 | C/T | — | uncertain significance |
| rs1569172827 | 22:38,962,732 | C/T | — | uncertain significance |
| rs558396440 | 22:38,963,628 | G/T | — | uncertain significance |
| rs6001159 | 22:38,966,487 | A/G | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.