GM2A
ganglioside GM2 activator
Summary
This gene encodes a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene result in GM2-gangliosidosis type AB or the AB variant of Tay-Sachs disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]
Known Variants189 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs113607860 | 5:150,632,278 | G/A | regulatory region variant | — |
| rs116594022 | 5:150,632,334 | C/T | — | benign |
| rs1753617546 | 5:150,632,674 | T/C | — | uncertain significance |
| rs2277028 | 5:150,632,676 | G/A | — | benign |
| rs1753618021 | 5:150,632,695 | C/G | — | uncertain significance |
| rs144932594 | 5:150,632,734 | G/A | — | benign |
| rs371628812 | 5:150,632,771 | C/G | — | uncertain significance |
| rs775585062 | 5:150,632,781 | C/T | — | likely pathogenic |
| rs562249526 | 5:150,632,782 | A/G | — | uncertain significance |
| rs762676667 | 5:150,632,788 | T/A | — | uncertain significance |
| rs557461469 | 5:150,632,790 | A/T | — | uncertain significance |
| rs759249002 | 5:150,632,791 | T/C | — | uncertain significance |
| rs752323907 | 5:150,632,801 | C/T | — | likely benign |
| rs143867953 | 5:150,632,810 | C/T | — | likely benign |
| rs1401755476 | 5:150,632,813 | C/T | — | likely benign |
| rs1753622145 | 5:150,632,814 | C/T | — | uncertain significance |
| rs374161170 | 5:150,632,816 | G/A | — | likely benign |
| rs1048719 | 5:150,632,832 | G/A | — | benign |
| rs780278367 | 5:150,632,834 | C/G | — | likely benign |
| rs1026835435 | 5:150,632,836 | C/T | — | uncertain significance |
| rs28365994 | 5:150,632,855 | A/T | — | likely benign |
| rs368443364 | 5:150,632,862 | A/G | — | uncertain significance |
| rs41290575 | 5:150,633,108 | A/C | — | benign |
| rs116789293 | 5:150,637,238 | C/A | regulatory region variant | — |
| rs16838 | 5:150,639,162 | G/C | — | benign |
| rs153476 | 5:150,639,224 | A/T | — | benign |
| rs751772881 | 5:150,639,298 | C/T | — | likely benign |
| rs2531745838 | 5:150,639,299 | T/C | — | likely benign |
| rs369106753 | 5:150,639,301 | C/T | — | likely benign |
| rs376211344 | 5:150,639,308 | G/C | — | likely benign |
| rs2531745881 | 5:150,639,318 | A/G | — | likely benign |
| rs1582070376 | 5:150,639,319 | T/C | — | uncertain significance |
| rs371296403 | 5:150,639,324 | G/T | — | uncertain significance |
| rs1427927893 | 5:150,639,332 | G/A | — | uncertain significance |
| rs113271740 | 5:150,639,360 | G/A | — | likely benign |
| rs1582070435 | 5:150,639,363 | G/A | — | likely benign |
| rs761268810 | 5:150,639,371 | C/A | — | uncertain significance |
| rs147511920 | 5:150,639,372 | G/A | — | likely benign |
| rs1269101684 | 5:150,639,373 | G/A | — | uncertain significance |
| rs104893897 | 5:150,639,394 | G/T | stop gained | pathogenic |
| rs730882196 | 5:150,639,398 | C/T | missense variant | pathogenic |
| rs755382727 | 5:150,639,406 | A/T | — | uncertain significance |
| rs767781109 | 5:150,639,407 | T/C | — | uncertain significance |
| rs153477 | 5:150,639,409 | A/G | missense variant | benign |
| rs745799277 | 5:150,639,411 | C/T | — | likely benign |
| rs201829650 | 5:150,639,412 | G/A | — | uncertain significance |
| rs141199254 | 5:150,639,416 | C/G | — | uncertain significance |
| rs2531746287 | 5:150,639,418 | G/A | — | uncertain significance |
| rs768523926 | 5:150,639,429 | C/T | — | likely benign |
| rs893036133 | 5:150,639,437 | T/C | — | uncertain significance |
| rs153478 | 5:150,639,439 | A/G | missense variant | benign |
| rs769261253 | 5:150,639,440 | T/C | — | uncertain significance |
| rs2114032524 | 5:150,639,441 | G/A | — | uncertain significance |
| rs766738446 | 5:150,639,486 | G/A | — | likely benign |
| rs1270808888 | 5:150,639,487 | G/A | — | likely benign |
| rs2277029 | 5:150,639,621 | C/G | — | benign |
| rs153479 | 5:150,639,778 | G/A | — | benign |
| rs6579845 | 5:150,642,265 | A/G | intron variant | — |
| rs769492387 | 5:150,646,277 | A/T | — | likely benign |
| rs772862761 | 5:150,646,279 | T/G | — | likely benign |
| rs2127240577 | 5:150,646,286 | T/C | — | likely benign |
| rs1057519022 | 5:150,646,290 | A/T | — | pathogenic |
| rs139014924 | 5:150,646,292 | G/C | — | uncertain significance |
| rs143999954 | 5:150,646,302 | T/G | — | uncertain significance |
| rs201066568 | 5:150,646,309 | G/A | — | likely benign |
| rs751417546 | 5:150,646,344 | G/A | — | uncertain significance |
| rs1443880021 | 5:150,646,356 | T/C | — | uncertain significance |
| rs907196314 | 5:150,646,363 | C/T | — | likely benign |
| rs587779405 | 5:150,646,381 | — | — | pathogenic |
| rs777250593 | 5:150,646,390 | G/C | — | likely benign |
| rs145111469 | 5:150,646,394 | G/C | — | uncertain significance |
| rs2531756555 | 5:150,646,412 | G/A | — | likely pathogenic |
| rs1561620130 | 5:150,646,427 | G/A | — | uncertain significance |
| rs2531756613 | 5:150,646,429 | G/A | — | likely benign |
| rs761084552 | 5:150,646,436 | C/T | — | uncertain significance |
| rs769169088 | 5:150,646,437 | G/A | — | likely benign |
| rs762131629 | 5:150,646,443 | A/T | — | uncertain significance |
| rs137852797 | 5:150,646,460 | T/C | missense variant | pathogenic |
| rs1174735558 | 5:150,646,461 | G/A | — | likely pathogenic |
| rs777663333 | 5:150,646,485 | A/T | — | likely benign |
| rs2075782 | 5:150,646,647 | T/C | — | benign |
| rs6861766 | 5:150,646,736 | C/T | — | benign |
| rs2075783 | 5:150,646,780 | A/C | — | benign |
| rs183697013 | 5:150,646,835 | C/T | — | likely benign |
| rs2531757415 | 5:150,646,843 | T/A | — | likely pathogenic |
| rs1753905990 | 5:150,646,844 | G/A | — | uncertain significance |
| rs1344677939 | 5:150,646,845 | G/A | — | likely benign |
| rs753609168 | 5:150,646,850 | C/T | — | likely benign |
| rs2531757440 | 5:150,646,851 | C/T | — | likely benign |
| rs761411485 | 5:150,646,853 | G/A | — | likely benign |
| rs757954770 | 5:150,646,858 | G/A | — | uncertain significance |
| rs2531757461 | 5:150,646,859 | A/T | — | likely benign |
| rs1267776933 | 5:150,646,875 | A/C | — | uncertain significance |
| rs1280352884 | 5:150,646,879 | G/A | — | uncertain significance |
| rs755569739 | 5:150,646,880 | C/T | — | likely benign |
| rs61740602 | 5:150,646,888 | T/C | — | benign |
| rs1753908017 | 5:150,646,897 | A/T | — | uncertain significance |
| rs1057519021 | 5:150,646,902 | G/T | stop gained | pathogenic |
| rs774471512 | 5:150,646,922 | C/G | — | likely benign |
| rs759623712 | 5:150,646,925 | C/T | — | likely benign |
Showing 100 of 189 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.