HTR1A
5-hydroxytryptamine receptor 1A
Summary
This gene encodes a G protein-coupled receptor for 5-hydroxytryptamine (serotonin), and belongs to the 5-hydroxytryptamine receptor subfamily. Serotonin has been implicated in a number of physiologic processes and pathologic conditions. Inactivation of this gene in mice results in behavior consistent with an increased anxiety and stress response. Mutation in the promoter of this gene has been associated with menstrual cycle-dependent periodic fevers. [provided by RefSeq, Jun 2012]
Known Variants38 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs878567 | 5:63,255,991 | A/C | — | — |
| rs6449693 | 5:63,256,018 | G/A | downstream gene variant | — |
| rs139026797 | 5:63,256,545 | C/T | — | likely benign |
| rs181835946 | 5:63,256,547 | T/G | — | likely benign |
| rs774406938 | 5:63,256,572 | A/G | — | likely benign |
| rs1395635564 | 5:63,256,592 | C/T | — | uncertain significance |
| rs367954876 | 5:63,256,645 | G/A | — | uncertain significance |
| rs761956170 | 5:63,256,658 | G/C | — | uncertain significance |
| rs763855576 | 5:63,256,686 | G/A | — | likely benign |
| rs199635945 | 5:63,256,689 | A/G | — | likely benign |
| rs149284354 | 5:63,256,692 | G/C | — | likely benign |
| rs1800042 | 5:63,256,729 | C/T | — | benign |
| rs1380997484 | 5:63,256,768 | C/T | — | uncertain significance |
| rs753733145 | 5:63,256,794 | C/G | — | uncertain significance |
| rs148698436 | 5:63,256,799 | G/A | — | uncertain significance |
| rs896078356 | 5:63,256,810 | G/T | — | uncertain significance |
| rs201899093 | 5:63,256,838 | C/T | — | conflicting classifications of pathogenicity |
| rs2530979669 | 5:63,256,873 | C/T | — | uncertain significance |
| rs1800044 | 5:63,256,888 | C/A | missense variant | likely benign |
| rs34118353 | 5:63,256,995 | G/A | synonymous variant | — |
| rs112846276 | 5:63,257,002 | G/A | missense variant | likely benign |
| rs115753404 | 5:63,257,082 | C/A | — | likely benign |
| rs145641566 | 5:63,257,083 | G/C | — | likely benign |
| rs113419974 | 5:63,257,124 | G/A | — | benign |
| rs760931046 | 5:63,257,131 | G/A | — | uncertain significance |
| rs2111832315 | 5:63,257,157 | G/T | — | likely benign |
| rs201760902 | 5:63,257,252 | G/A | — | uncertain significance |
| rs6294 | 5:63,257,253 | C/G | synonymous variant | — |
| rs201953609 | 5:63,257,272 | A/G | — | uncertain significance |
| rs920591557 | 5:63,257,332 | T/C | — | uncertain significance |
| rs1746441344 | 5:63,257,438 | C/T | — | uncertain significance |
| rs958383084 | 5:63,257,451 | G/C | — | likely benign |
| rs1799921 | 5:63,257,465 | T/C | — | benign |
| rs1800041 | 5:63,257,500 | G/A | — | benign |
| rs201654331 | 5:63,257,515 | T/G | — | uncertain significance |
| rs6295 | 5:63,258,565 | C/G | upstream gene variant | likely benign |
| rs113195492 | 5:63,258,614 | C/T | upstream gene variant | — |
| rs10042486 | 5:63,261,329 | C/T | upstream gene variant | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.