HORMAD1
HORMA domain containing 1
Summary
This gene encodes a HORMA domain-containing protein. HORMA domains are involved in chromatin binding and play a role in cell cycle regulation. The encoded protein may play a role in meiosis, and expression of this gene is a potential marker for cancer. A pseudogene of this gene is located on the long arm of chromosome 6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
Known Variants18 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2524880233 | 1:150,671,147 | G/T | — | uncertain significance |
| rs1049670028 | 1:150,671,173 | A/C | — | uncertain significance |
| rs776830710 | 1:150,671,184 | A/C | — | uncertain significance |
| rs1305752344 | 1:150,672,601 | T/C | — | uncertain significance |
| rs201729000 | 1:150,672,619 | C/T | — | uncertain significance |
| rs111312516 | 1:150,673,366 | G/A | upstream gene variant | — |
| rs2524906308 | 1:150,675,797 | G/A | — | pathogenic |
| rs1333018583 | 1:150,676,622 | C/A | — | uncertain significance |
| rs2524911732 | 1:150,676,646 | T/C | — | uncertain significance |
| rs149843100 | 1:150,676,807 | T/C | — | uncertain significance |
| rs190568210 | 1:150,677,681 | G/A | downstream gene variant | — |
| rs1489295439 | 1:150,679,085 | A/G | — | likely benign |
| rs2524926810 | 1:150,679,115 | T/C | — | uncertain significance |
| rs771963337 | 1:150,679,144 | C/T | — | likely benign |
| rs375534263 | 1:150,680,849 | T/C | — | benign |
| rs11204711 | 1:150,682,115 | A/G | — | — |
| rs148759975 | 1:150,684,040 | G/A | — | uncertain significance |
| rs374398658 | 1:150,686,562 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.