ATXN3
ataxin 3
Summary
Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 12-44 to 52-86 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2016]
Known Variants36 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs9652396 | 14:92,525,617 | T/C | coding sequence variant | — |
| rs774914247 | 14:92,530,677 | T/C | — | uncertain significance |
| rs1037710267 | 14:92,530,690 | C/A | — | uncertain significance |
| rs7143616 | 14:92,531,458 | A/C | intron variant | — |
| rs7150333 | 14:92,532,013 | T/C | intron variant | — |
| rs8012666 | 14:92,532,620 | C/T | intron variant | — |
| rs12588287 | 14:92,536,959 | T/C | intron variant | — |
| rs1418051273 | 14:92,537,193 | A/G | — | likely benign |
| rs893621398 | 14:92,537,323 | C/T | — | uncertain significance |
| rs12895357 | 14:92,537,354 | C/G | — | benign |
| rs12896583 | 14:92,537,379 | T/C | — | likely benign |
| rs12896588 | 14:92,537,387 | T/G | — | benign |
| rs12896589 | 14:92,537,388 | T/C | — | benign |
| rs34207682 | 14:92,544,937 | T/C | intron variant | — |
| rs59864685 | 14:92,545,244 | A/G | intron variant | — |
| rs147058331 | 14:92,547,327 | C/T | — | uncertain significance |
| rs145210459 | 14:92,547,336 | C/T | — | uncertain significance |
| rs1050742253 | 14:92,547,399 | G/T | — | uncertain significance |
| rs201992162 | 14:92,547,408 | G/A | — | uncertain significance |
| rs767543973 | 14:92,548,695 | T/C | — | uncertain significance |
| rs148366775 | 14:92,548,747 | T/G | — | uncertain significance |
| rs774064667 | 14:92,548,775 | G/A | — | uncertain significance |
| rs2544169414 | 14:92,548,776 | C/G | — | uncertain significance |
| rs142148800 | 14:92,548,777 | T/C | — | likely benign |
| rs1048755 | 14:92,548,785 | C/T | — | benign |
| rs141672872 | 14:92,549,495 | C/T | — | uncertain significance |
| rs2544209995 | 14:92,549,504 | T/C | — | uncertain significance |
| rs16999141 | 14:92,549,586 | G/A | — | benign |
| rs79873516 | 14:92,553,580 | A/T | intron variant | — |
| rs754007849 | 14:92,555,136 | G/A | — | uncertain significance |
| rs17807815 | 14:92,556,055 | T/C | intron variant | — |
| rs754873504 | 14:92,559,626 | G/C | — | uncertain significance |
| rs2544794749 | 14:92,562,474 | G/A | — | uncertain significance |
| rs144506566 | 14:92,563,028 | G/A | — | likely benign |
| rs2545160801 | 14:92,572,880 | T/G | — | uncertain significance |
| rs3814834 | 14:92,572,927 | G/A | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.