SLC22A5
solute carrier family 22 member 5
Summary
Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Known Variants934 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2631372 | 5:131,703,578 | G/C | upstream gene variant | — |
| rs191860149 | 5:131,704,047 | C/A | upstream gene variant | — |
| rs34786243 | 5:131,704,720 | T/G | — | benign |
| rs4646298 | 5:131,705,219 | C/T | — | benign |
| rs2631369 | 5:131,705,266 | G/C | — | benign |
| rs2631368 | 5:131,705,297 | T/G | — | benign |
| rs60978556 | 5:131,705,346 | A/C | — | likely benign |
| rs4646300 | 5:131,705,431 | C/G | — | benign |
| rs1751803560 | 5:131,705,434 | G/C | — | uncertain significance |
| rs2631367 | 5:131,705,458 | C/G | regulatory region variant | benign |
| rs1751805896 | 5:131,705,459 | A/C | — | uncertain significance |
| rs57262206 | 5:131,705,516 | G/A | — | pathogenic |
| rs13180169 | 5:131,705,526 | G/T | — | benign |
| rs1554085854 | 5:131,705,534 | A/C | — | uncertain significance |
| rs538643468 | 5:131,705,547 | G/A | — | likely benign |
| rs13180186 | 5:131,705,558 | G/T | — | benign |
| rs568975386 | 5:131,705,565 | G/C | — | likely benign |
| rs13180043 | 5:131,705,587 | C/T | — | benign |
| rs13180295 | 5:131,705,588 | G/A | — | benign |
| rs758034537 | 5:131,705,635 | G/C | — | uncertain significance |
| rs369724970 | 5:131,705,639 | G/A | — | conflicting classifications of pathogenicity |
| rs886059907 | 5:131,705,640 | C/T | — | uncertain significance |
| rs774971089 | 5:131,705,665 | A/G | — | pathogenic |
| rs1554085885 | 5:131,705,666 | T/C | — | pathogenic |
| rs121908892 | 5:131,705,667 | G/T | missense variant | pathogenic |
| rs762330138 | 5:131,705,668 | C/G | — | uncertain significance |
| rs773282630 | 5:131,705,669 | G/C | — | uncertain significance |
| rs72552722 | 5:131,705,676 | C/G | stop gained | pathogenic |
| rs1303490919 | 5:131,705,685 | G/T | — | likely benign |
| rs923600059 | 5:131,705,687 | C/T | — | uncertain significance |
| rs766678115 | 5:131,705,688 | C/A | — | likely benign |
| rs753998904 | 5:131,705,690 | C/T | — | uncertain significance |
| rs2532087795 | 5:131,705,691 | C/T | — | likely benign |
| rs759420042 | 5:131,705,692 | T/C | — | uncertain significance |
| rs1751823291 | 5:131,705,693 | T/A | — | uncertain significance |
| rs574313463 | 5:131,705,694 | C/T | — | likely benign |
| rs2532087819 | 5:131,705,695 | C/T | — | likely benign |
| rs1751823540 | 5:131,705,696 | T/C | — | uncertain significance |
| rs139203363 | 5:131,705,698 | G/A | missense variant | pathogenic |
| rs886043206 | 5:131,705,699 | G/A | — | uncertain significance |
| rs1751823925 | 5:131,705,700 | C/T | — | likely benign |
| rs553647459 | 5:131,705,701 | G/T | — | pathogenic |
| rs1561560357 | 5:131,705,703 | G/C | — | uncertain significance |
| rs756863825 | 5:131,705,704 | T/A | — | pathogenic |
| rs796052036 | 5:131,705,706 | G/A | stop gained | pathogenic |
| rs267607052 | 5:131,705,707 | G/T | missense variant | pathogenic |
| rs751129547 | 5:131,705,708 | G/A | — | conflicting classifications of pathogenicity |
| rs911499169 | 5:131,705,709 | G/C | — | likely benign |
| rs2532087944 | 5:131,705,711 | C/T | — | uncertain significance |
| rs11568520 | 5:131,705,715 | C/G | missense variant | pathogenic |
| rs2126764773 | 5:131,705,716 | C/G | — | uncertain significance |
| rs2126764776 | 5:131,705,717 | A/G | — | uncertain significance |
| rs1319889867 | 5:131,705,719 | C/A | — | conflicting classifications of pathogenicity |
| rs72552723 | 5:131,705,720 | G/C | missense variant | pathogenic |
| rs780964945 | 5:131,705,721 | C/T | — | uncertain significance |
| rs144020613 | 5:131,705,723 | T/A | missense variant | pathogenic |
| rs769437903 | 5:131,705,727 | C/T | — | likely benign |
| rs1317161149 | 5:131,705,730 | C/T | — | likely benign |
| rs2532088140 | 5:131,705,734 | C/T | — | likely benign |
| rs775502377 | 5:131,705,735 | — | — | pathogenic |
| rs1225763110 | 5:131,705,736 | G/C | — | likely benign |
| rs144054688 | 5:131,705,739 | C/T | — | conflicting classifications of pathogenicity |
| rs1751828398 | 5:131,705,740 | A/G | — | likely pathogenic |
| rs772578415 | 5:131,705,741 | G/A | missense variant | pathogenic |
| rs2532088198 | 5:131,705,742 | C/G | — | likely pathogenic |
| rs1254960526 | 5:131,705,743 | G/A | — | uncertain significance |
| rs2532088220 | 5:131,705,745 | C/T | — | likely benign |
| rs72552724 | 5:131,705,747 | G/T | missense variant | pathogenic |
| rs773693788 | 5:131,705,748 | C/A | — | likely pathogenic |
| rs2532088247 | 5:131,705,751 | C/A | — | likely benign |
| rs2532088257 | 5:131,705,754 | C/T | — | likely benign |
| rs2126764868 | 5:131,705,756 | C/T | — | pathogenic |
| rs375293546 | 5:131,705,757 | C/T | — | likely benign |
| rs727504158 | 5:131,705,758 | A/G | — | likely pathogenic |
| rs72552725 | 5:131,705,759 | A/G | missense variant | pathogenic |
| rs776965130 | 5:131,705,767 | A/G | — | likely benign |
| rs759704527 | 5:131,705,768 | C/T | — | uncertain significance |
| rs765461422 | 5:131,705,769 | C/T | — | likely benign |
| rs775432496 | 5:131,705,772 | C/T | — | likely benign |
| rs796052037 | 5:131,705,773 | C/G | — | uncertain significance |
| rs762780354 | 5:131,705,775 | G/C | — | likely benign |
| rs2532088378 | 5:131,705,776 | T/A | — | uncertain significance |
| rs369354736 | 5:131,705,777 | C/A | — | pathogenic |
| rs756867867 | 5:131,705,778 | C/G | — | likely benign |
| rs544332057 | 5:131,705,779 | T/G | — | conflicting classifications of pathogenicity |
| rs201427730 | 5:131,705,781 | C/T | — | likely benign |
| rs148657753 | 5:131,705,782 | G/A | — | uncertain significance |
| rs1561560593 | 5:131,705,783 | T/A | — | uncertain significance |
| rs2532088431 | 5:131,705,784 | G/A | — | likely benign |
| rs1335556134 | 5:131,705,786 | T/G | — | uncertain significance |
| rs2126764960 | 5:131,705,787 | C/G | — | uncertain significance |
| rs2126764965 | 5:131,705,790 | G/T | — | likely benign |
| rs1266620798 | 5:131,705,794 | G/A | — | uncertain significance |
| rs199689597 | 5:131,705,795 | C/T | — | conflicting classifications of pathogenicity |
| rs1387676594 | 5:131,705,796 | G/A | — | likely benign |
| rs376438682 | 5:131,705,797 | A/G | — | uncertain significance |
| rs1751834531 | 5:131,705,798 | C/A | — | uncertain significance |
| rs202000855 | 5:131,705,799 | C/A | — | likely benign |
| rs202088921 | 5:131,705,800 | C/T | missense variant | pathogenic |
| rs377767445 | 5:131,705,801 | C/T | missense variant | pathogenic |
Showing 100 of 934 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.