VPS13A
vacuolar protein sorting 13 homolog A
Summary
The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea-acanthocytosis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
Known Variants2,548 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12340377 | 9:79,792,019 | C/G | — | benign |
| rs12349251 | 9:79,792,075 | G/C | — | benign |
| rs371292625 | 9:79,792,206 | T/C | — | likely benign |
| rs542679691 | 9:79,792,357 | G/C | — | uncertain significance |
| rs545092496 | 9:79,792,389 | G/C | — | uncertain significance |
| rs12349389 | 9:79,792,438 | G/A | — | uncertain significance |
| rs117488726 | 9:79,792,440 | A/G | — | benign |
| rs1057515644 | 9:79,792,463 | G/C | — | uncertain significance |
| rs560445300 | 9:79,792,471 | C/T | — | uncertain significance |
| rs555695029 | 9:79,792,473 | C/T | — | uncertain significance |
| rs372360076 | 9:79,792,605 | A/T | — | uncertain significance |
| rs2131029946 | 9:79,792,621 | A/T | — | likely pathogenic |
| rs1823718940 | 9:79,792,629 | C/T | — | likely benign |
| rs1237975830 | 9:79,792,632 | G/A | — | likely benign |
| rs2131030007 | 9:79,792,634 | C/A | — | likely pathogenic |
| rs755971991 | 9:79,792,641 | C/G | — | likely benign |
| rs143617269 | 9:79,792,644 | G/A | — | likely benign |
| rs377024771 | 9:79,792,656 | C/T | — | likely benign |
| rs2131030100 | 9:79,792,662 | C/T | — | likely benign |
| rs2131030184 | 9:79,792,683 | C/T | — | likely benign |
| rs1360245833 | 9:79,792,684 | T/C | — | likely benign |
| rs745449298 | 9:79,792,692 | G/A | — | likely benign |
| rs1246783134 | 9:79,792,695 | C/T | — | likely benign |
| rs1468144614 | 9:79,792,704 | T/A | — | likely benign |
| rs1313756329 | 9:79,792,707 | G/A | — | likely benign |
| rs1564608747 | 9:79,792,710 | C/T | — | likely benign |
| rs2131030358 | 9:79,792,728 | G/C | — | likely benign |
| rs2131030371 | 9:79,792,729 | G/C | — | likely benign |
| rs2537449946 | 9:79,792,736 | C/T | — | likely benign |
| rs376153095 | 9:79,792,739 | C/T | — | likely benign |
| rs368960116 | 9:79,792,740 | C/T | — | likely benign |
| rs45463897 | 9:79,792,920 | G/T | — | benign |
| rs114803328 | 9:79,792,945 | G/A | — | benign |
| rs11145324 | 9:79,800,111 | G/C | regulatory region variant | — |
| rs12551580 | 9:79,814,565 | C/T | — | benign |
| rs139379490 | 9:79,814,666 | T/G | — | likely benign |
| rs12552898 | 9:79,814,799 | A/G | — | benign |
| rs990061243 | 9:79,814,844 | T/G | — | likely benign |
| rs202024224 | 9:79,814,847 | T/G | — | conflicting classifications of pathogenicity |
| rs1043664164 | 9:79,814,848 | T/A | — | likely benign |
| rs190684534 | 9:79,814,854 | T/C | — | likely benign |
| rs2537516776 | 9:79,814,855 | T/G | — | likely benign |
| rs762167465 | 9:79,814,857 | T/C | — | likely benign |
| rs1825228652 | 9:79,814,874 | C/T | — | likely benign |
| rs960135788 | 9:79,814,876 | A/G | — | uncertain significance |
| rs140518771 | 9:79,814,886 | A/C | — | uncertain significance |
| rs2537516957 | 9:79,814,892 | A/G | — | likely benign |
| rs376952243 | 9:79,814,898 | T/C | — | likely benign |
| rs1025656538 | 9:79,814,901 | C/T | — | likely benign |
| rs1450505752 | 9:79,814,902 | C/T | — | likely benign |
| rs2537517002 | 9:79,814,905 | G/C | — | pathogenic |
| rs2131103455 | 9:79,814,907 | A/G | — | uncertain significance |
| rs2131103471 | 9:79,814,914 | G/C | — | likely benign |
| rs753683797 | 9:79,814,918 | A/C | — | likely benign |
| rs182861770 | 9:79,814,919 | T/C | — | benign |
| rs11145329 | 9:79,815,140 | T/C | — | benign |
| rs146795997 | 9:79,816,075 | A/G | — | likely benign |
| rs754661980 | 9:79,816,262 | A/G | — | likely benign |
| rs2537521555 | 9:79,816,267 | A/C | — | likely benign |
| rs2537521565 | 9:79,816,268 | A/T | — | likely benign |
| rs573008708 | 9:79,816,277 | G/T | — | likely benign |
| rs1447002141 | 9:79,816,279 | A/T | — | pathogenic |
| rs150034322 | 9:79,816,286 | A/G | — | likely benign |
| rs1057515645 | 9:79,816,295 | A/G | — | conflicting classifications of pathogenicity |
| rs2131108163 | 9:79,816,298 | A/G | — | likely benign |
| rs201490407 | 9:79,816,308 | A/C | — | uncertain significance |
| rs1825322352 | 9:79,816,310 | A/G | — | likely benign |
| rs1396479624 | 9:79,816,331 | A/G | — | likely benign |
| rs1825323384 | 9:79,816,332 | T/C | — | likely benign |
| rs758410781 | 9:79,816,337 | A/G | — | likely benign |
| rs2537521874 | 9:79,816,339 | T/C | — | likely benign |
| rs117478720 | 9:79,816,489 | T/C | — | likely benign |
| rs538417363 | 9:79,820,213 | T/C | — | likely benign |
| rs774900899 | 9:79,820,215 | C/T | — | likely benign |
| rs1299246965 | 9:79,820,216 | C/G | — | likely benign |
| rs1175408331 | 9:79,820,217 | A/C | — | likely benign |
| rs2537535826 | 9:79,820,222 | A/T | — | likely benign |
| rs2537535845 | 9:79,820,224 | T/C | — | likely benign |
| rs1312425146 | 9:79,820,227 | A/G | — | likely pathogenic |
| rs1451581173 | 9:79,820,237 | A/G | — | uncertain significance |
| rs1335505417 | 9:79,820,251 | A/G | — | likely benign |
| rs1283058614 | 9:79,820,260 | C/T | — | likely benign |
| rs1589993954 | 9:79,820,267 | A/T | — | uncertain significance |
| rs115443572 | 9:79,820,269 | T/C | — | benign |
| rs751585852 | 9:79,820,284 | C/T | — | likely benign |
| rs2131123180 | 9:79,820,287 | A/G | — | likely benign |
| rs119477052 | 9:79,820,310 | T/A | missense variant | pathogenic |
| rs949909507 | 9:79,820,320 | T/C | — | likely benign |
| rs2131123295 | 9:79,820,326 | T/G | — | likely pathogenic |
| rs2131123321 | 9:79,820,333 | A/C | — | likely benign |
| rs1185592215 | 9:79,820,337 | T/A | — | likely benign |
| rs977566540 | 9:79,820,338 | A/T | — | likely benign |
| rs146299716 | 9:79,820,437 | A/G | — | likely benign |
| rs62573171 | 9:79,820,439 | A/G | — | benign |
| rs145102174 | 9:79,820,530 | T/G | — | likely benign |
| rs7032408 | 9:79,820,593 | C/T | — | benign |
| rs2537538739 | 9:79,820,876 | T/A | — | likely benign |
| rs2537538754 | 9:79,820,877 | T/C | — | likely benign |
| rs2537538763 | 9:79,820,879 | T/C | — | likely benign |
| rs1234694375 | 9:79,820,887 | C/T | — | likely benign |
Showing 100 of 2,548 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.