ATXN10
ataxin 10
Summary
This gene encodes a protein that may function in neuron survival, neuron differentiation, and neuritogenesis. These roles may be carried out via activation of the mitogen-activated protein kinase cascade. Expansion of an ATTCT repeat from 9-32 copies to 800-4500 copies in an intronic region of this locus has been associated with spinocerebellar ataxia, type 10. Alternatively spliced transcript variants have been described.[provided by RefSeq, Jul 2016]
Known Variants37 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs144270457 | 22:46,067,693 | C/T | — | benign |
| rs1031081956 | 22:46,067,954 | C/G | — | uncertain significance |
| rs1296770412 | 22:46,067,956 | A/G | — | uncertain significance |
| rs551371726 | 22:46,067,974 | C/A | — | uncertain significance |
| rs186793141 | 22:46,068,019 | C/T | — | likely benign |
| rs2518038020 | 22:46,068,022 | C/T | — | uncertain significance |
| rs1160067775 | 22:46,068,063 | A/T | — | uncertain significance |
| rs2071872 | 22:46,068,144 | G/A | — | benign |
| rs755973840 | 22:46,085,613 | C/G | — | uncertain significance |
| rs140005836 | 22:46,085,637 | A/G | — | likely benign |
| rs61733598 | 22:46,088,888 | G/A | — | likely benign |
| rs148464355 | 22:46,088,905 | A/G | — | uncertain significance |
| rs9614506 | 22:46,095,943 | T/C | — | benign |
| rs16994442 | 22:46,095,997 | A/G | — | benign |
| rs199766375 | 22:46,096,174 | G/T | — | uncertain significance |
| rs758820148 | 22:46,098,615 | A/G | — | uncertain significance |
| rs764854879 | 22:46,098,728 | G/A | — | uncertain significance |
| rs2071851 | 22:46,114,147 | C/T | — | benign |
| rs2071852 | 22:46,114,244 | T/C | — | benign |
| rs138156 | 22:46,114,398 | G/T | — | benign |
| rs1057473358 | 22:46,125,328 | T/C | — | uncertain significance |
| rs141434930 | 22:46,125,480 | G/T | — | likely benign |
| rs376717467 | 22:46,134,624 | C/T | — | uncertain significance |
| rs143763891 | 22:46,134,641 | G/A | — | likely benign |
| rs34763958 | 22:46,134,694 | C/T | — | likely benign |
| rs138170 | 22:46,134,933 | A/G | — | benign |
| rs41279801 | 22:46,136,298 | C/T | — | likely benign |
| rs778508085 | 22:46,136,300 | G/C | — | uncertain significance |
| rs2518094719 | 22:46,136,410 | C/T | — | uncertain significance |
| rs28709413 | 22:46,136,597 | C/T | — | benign |
| rs5764833 | 22:46,136,599 | C/T | — | benign |
| rs10775782 | 22:46,136,609 | C/T | — | benign |
| rs3887390 | 22:46,136,619 | C/T | — | benign |
| rs182307779 | 22:46,141,340 | A/C | intron variant | — |
| rs17573837 | 22:46,149,195 | A/G | regulatory region variant | — |
| rs136013 | 22:46,197,605 | G/A | intron variant | — |
| rs3827398 | 22:46,202,925 | A/G | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.