ADGRV1
adhesion G protein-coupled receptor V1
Summary
This gene encodes a member of the G-protein coupled receptor superfamily. The encoded protein contains a 7-transmembrane receptor domain, binds calcium and is expressed in the central nervous system. Mutations in this gene are associated with Usher syndrome 2 and familial febrile seizures. Several alternatively spliced transcripts have been described. [provided by RefSeq, Jul 2008]
Known Variants5,305 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs154570 | 5:89,854,312 | G/C | — | benign |
| rs154569 | 5:89,854,325 | G/A | — | benign |
| rs373356912 | 5:89,854,427 | C/T | — | likely benign |
| rs154568 | 5:89,854,448 | G/C | — | benign |
| rs114738440 | 5:89,854,483 | G/A | — | benign |
| rs73176098 | 5:89,854,567 | G/A | — | likely benign |
| rs7706355 | 5:89,854,615 | G/A | — | benign |
| rs150816712 | 5:89,854,646 | A/T | — | likely benign |
| rs116110048 | 5:89,854,666 | G/C | — | benign |
| rs192362302 | 5:89,854,669 | C/T | — | conflicting classifications of pathogenicity |
| rs727504484 | 5:89,854,702 | G/A | — | uncertain significance |
| rs2531199135 | 5:89,854,713 | A/T | — | uncertain significance |
| rs1228352007 | 5:89,854,715 | G/A | — | conflicting classifications of pathogenicity |
| rs556739703 | 5:89,854,718 | G/T | — | likely benign |
| rs570271767 | 5:89,854,725 | C/T | — | likely benign |
| rs973537840 | 5:89,854,727 | G/C | — | likely benign |
| rs1443200866 | 5:89,854,730 | G/T | — | likely benign |
| rs727504831 | 5:89,854,733 | A/C | — | conflicting classifications of pathogenicity |
| rs2531199635 | 5:89,854,737 | A/C | — | uncertain significance |
| rs767310903 | 5:89,854,740 | C/T | — | uncertain significance |
| rs1754419033 | 5:89,854,742 | A/G | — | likely benign |
| rs368604803 | 5:89,854,743 | T/C | — | likely benign |
| rs1182830182 | 5:89,854,746 | C/A | — | likely benign |
| rs372874315 | 5:89,854,751 | G/A | — | likely benign |
| rs1476959586 | 5:89,854,753 | G/C | — | likely benign |
| rs7706392 | 5:89,854,790 | C/T | — | benign |
| rs41311623 | 5:89,854,796 | A/G | — | likely benign |
| rs112349718 | 5:89,855,043 | A/G | — | likely benign |
| rs1758425024 | 5:89,879,922 | A/C | — | uncertain significance |
| rs200981074 | 5:89,910,522 | G/A | — | benign |
| rs753683852 | 5:89,910,559 | T/C | — | likely benign |
| rs1763158795 | 5:89,910,633 | T/C | — | likely benign |
| rs567154907 | 5:89,910,639 | C/G | — | likely benign |
| rs1037053972 | 5:89,910,643 | T/A | — | likely benign |
| rs2152050345 | 5:89,910,646 | T/C | — | likely benign |
| rs2531675868 | 5:89,910,651 | G/A | — | likely pathogenic |
| rs374852466 | 5:89,910,653 | G/T | — | likely benign |
| rs2531676129 | 5:89,910,664 | C/T | — | uncertain significance |
| rs776235732 | 5:89,910,665 | A/C | — | likely benign |
| rs2531676597 | 5:89,910,692 | T/C | — | likely benign |
| rs1200579219 | 5:89,910,698 | C/T | — | likely benign |
| rs1259047649 | 5:89,910,701 | C/T | — | likely benign |
| rs2531676751 | 5:89,910,704 | A/G | — | likely benign |
| rs1448988903 | 5:89,910,710 | G/A | — | likely benign |
| rs1251638958 | 5:89,910,713 | T/G | — | uncertain significance |
| rs2152050517 | 5:89,910,715 | G/A | — | uncertain significance |
| rs1056756258 | 5:89,910,716 | A/T | — | likely benign |
| rs371863610 | 5:89,910,731 | A/G | — | likely benign |
| rs376898569 | 5:89,910,742 | A/G | — | likely benign |
| rs2531677462 | 5:89,910,743 | A/G | — | likely benign |
| rs1763175583 | 5:89,910,750 | T/A | — | uncertain significance |
| rs529913709 | 5:89,910,753 | G/A | — | uncertain significance |
| rs1330262216 | 5:89,910,754 | T/A | — | likely benign |
| rs2531677808 | 5:89,910,755 | T/G | — | likely benign |
| rs368716112 | 5:89,910,761 | T/C | — | benign |
| rs754162988 | 5:89,910,766 | C/T | — | conflicting classifications of pathogenicity |
| rs1763179295 | 5:89,910,773 | A/G | — | likely benign |
| rs1216684454 | 5:89,910,775 | C/G | — | likely benign |
| rs758626904 | 5:89,910,783 | C/T | — | likely benign |
| rs199798095 | 5:89,910,784 | G/A | — | conflicting classifications of pathogenicity |
| rs956307189 | 5:89,910,799 | G/A | — | conflicting classifications of pathogenicity |
| rs2531678966 | 5:89,910,806 | A/G | — | likely benign |
| rs569274233 | 5:89,910,809 | G/C | — | conflicting classifications of pathogenicity |
| rs1210967634 | 5:89,910,811 | C/T | — | uncertain significance |
| rs1194517447 | 5:89,910,817 | A/G | — | uncertain significance |
| rs1463493906 | 5:89,910,828 | A/G | — | uncertain significance |
| rs776231131 | 5:89,910,831 | G/T | — | uncertain significance |
| rs1009828203 | 5:89,910,833 | A/G | — | likely benign |
| rs759248697 | 5:89,910,835 | C/T | — | uncertain significance |
| rs142356935 | 5:89,910,839 | A/G | — | conflicting classifications of pathogenicity |
| rs762809484 | 5:89,910,844 | A/G | — | likely benign |
| rs182984476 | 5:89,911,056 | G/T | — | likely benign |
| rs2152056454 | 5:89,913,603 | A/G | — | likely benign |
| rs2531705478 | 5:89,913,614 | T/C | — | likely benign |
| rs374070113 | 5:89,913,617 | A/G | — | likely benign |
| rs1289037094 | 5:89,913,622 | T/C | — | uncertain significance |
| rs530533430 | 5:89,913,625 | A/G | — | conflicting classifications of pathogenicity |
| rs780750634 | 5:89,913,633 | G/A | — | uncertain significance |
| rs181146384 | 5:89,913,635 | C/T | — | conflicting classifications of pathogenicity |
| rs769451565 | 5:89,913,636 | G/A | — | likely benign |
| rs1763560355 | 5:89,913,641 | T/G | — | likely benign |
| rs376660492 | 5:89,913,656 | A/T | — | likely benign |
| rs1166958114 | 5:89,913,658 | A/G | — | uncertain significance |
| rs1159382929 | 5:89,913,665 | A/T | — | likely benign |
| rs1017548979 | 5:89,913,667 | C/G | — | uncertain significance |
| rs1763564700 | 5:89,913,672 | A/G | — | uncertain significance |
| rs1346584613 | 5:89,913,676 | C/T | — | uncertain significance |
| rs1445238716 | 5:89,913,678 | G/A | — | uncertain significance |
| rs759771981 | 5:89,913,680 | C/T | — | conflicting classifications of pathogenicity |
| rs533094348 | 5:89,913,681 | G/A | — | uncertain significance |
| rs2531706900 | 5:89,913,696 | A/C | — | uncertain significance |
| rs2531707044 | 5:89,913,700 | T/C | — | uncertain significance |
| rs765965568 | 5:89,913,705 | A/G | — | likely benign |
| rs1763569691 | 5:89,913,709 | C/T | — | uncertain significance |
| rs41308299 | 5:89,913,711 | G/C | — | uncertain significance |
| rs2152056643 | 5:89,913,713 | A/G | — | likely benign |
| rs876657824 | 5:89,913,718 | A/G | — | uncertain significance |
| rs752105621 | 5:89,913,719 | T/C | — | likely benign |
| rs780624271 | 5:89,913,725 | C/T | — | likely benign |
| rs1266359252 | 5:89,913,734 | G/A | — | likely benign |
Showing 100 of 5,305 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.