SORT1
sortilin 1
Summary
This gene encodes a member of the VPS10-related sortilin family of proteins. The encoded preproprotein is proteolytically processed by furin to generate the mature receptor. This receptor plays a role in the trafficking of different proteins to either the cell surface, or subcellular compartments such as lysosomes and endosomes. Expression levels of this gene may influence the risk of myocardial infarction in human patients. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
Known Variants43 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs464218 | 1:109,856,306 | G/A | regulatory region variant | — |
| rs661278 | 1:109,856,843 | G/T | intron variant | — |
| rs768499373 | 1:109,856,923 | G/A | — | uncertain significance |
| rs369998819 | 1:109,857,362 | G/A | — | likely benign |
| rs374355693 | 1:109,859,481 | C/T | — | likely benign |
| rs146732214 | 1:109,859,482 | G/A | — | uncertain significance |
| rs72646588 | 1:109,859,485 | C/T | — | benign |
| rs114570757 | 1:109,864,561 | C/T | intron variant | — |
| rs2526920531 | 1:109,865,673 | A/C | — | uncertain significance |
| rs149226217 | 1:109,867,673 | G/A | — | uncertain significance |
| rs747602158 | 1:109,869,618 | T/G | — | uncertain significance |
| rs201347823 | 1:109,869,637 | G/A | — | benign |
| rs751543833 | 1:109,870,169 | T/C | — | uncertain significance |
| rs144141753 | 1:109,878,893 | T/C | — | likely benign |
| rs1648820781 | 1:109,878,918 | G/A | — | uncertain significance |
| rs746387781 | 1:109,883,383 | G/A | — | likely benign |
| rs368245847 | 1:109,883,465 | C/T | — | uncertain significance |
| rs2228605 | 1:109,884,672 | C/A | — | benign |
| rs201432911 | 1:109,884,753 | T/C | — | uncertain significance |
| rs2228604 | 1:109,884,775 | T/G | — | benign |
| rs552332611 | 1:109,888,404 | C/T | — | uncertain significance |
| rs141749679 | 1:109,888,432 | T/C | — | likely benign |
| rs755897396 | 1:109,888,473 | C/T | — | uncertain significance |
| rs754907770 | 1:109,888,483 | C/T | — | uncertain significance |
| rs777129727 | 1:109,890,129 | T/A | — | uncertain significance |
| rs746589943 | 1:109,890,130 | A/C | — | uncertain significance |
| rs2527039007 | 1:109,893,593 | C/T | — | uncertain significance |
| rs11142 | 1:109,897,103 | A/G | — | benign |
| rs375887021 | 1:109,897,158 | T/C | — | likely benign |
| rs150041247 | 1:109,897,981 | A/T | — | benign |
| rs1000078040 | 1:109,898,009 | C/A | — | uncertain significance |
| rs1963869 | 1:109,901,462 | G/C | intron variant | — |
| rs61797119 | 1:109,910,100 | T/C | — | likely benign |
| rs17646665 | 1:109,912,051 | A/G | regulatory region variant | — |
| rs145159492 | 1:109,912,185 | T/C | — | likely benign |
| rs552201257 | 1:109,916,003 | G/C | — | — |
| rs3768495 | 1:109,935,325 | C/G | — | — |
| rs1230620284 | 1:109,940,231 | T/C | — | uncertain significance |
| rs1653272792 | 1:109,940,244 | C/T | — | uncertain significance |
| rs1653273669 | 1:109,940,256 | C/G | — | uncertain significance |
| rs2527216379 | 1:109,940,432 | G/A | — | uncertain significance |
| rs976229790 | 1:109,940,487 | C/G | — | uncertain significance |
| rs72646553 | 1:109,940,503 | G/C | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.