TMEM63A
transmembrane protein 63A
Summary
Enables mechanosensitive monoatomic ion channel activity. Predicted to be involved in surfactant secretion. Located in bounding membrane of organelle; centriolar satellite; and plasma membrane. Implicated in hypomyelinating leukodystrophy 19. [provided by Alliance of Genome Resources, Apr 2025]
Known Variants91 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs371169629 | 1:226,034,775 | G/A | — | likely benign |
| rs754876677 | 1:226,034,779 | C/T | — | likely benign |
| rs1263039802 | 1:226,034,796 | T/C | — | uncertain significance |
| rs371101906 | 1:226,034,812 | C/T | — | likely benign |
| rs751823909 | 1:226,034,825 | G/C | — | uncertain significance |
| rs374322367 | 1:226,034,847 | T/C | — | conflicting classifications of pathogenicity |
| rs138912199 | 1:226,034,879 | C/T | — | likely benign |
| rs780727416 | 1:226,034,880 | G/A | — | uncertain significance |
| rs557116423 | 1:226,034,908 | C/G | — | uncertain significance |
| rs12121252 | 1:226,034,920 | A/G | — | likely benign |
| rs761660004 | 1:226,036,200 | G/A | — | uncertain significance |
| rs2102811326 | 1:226,036,206 | G/C | — | uncertain significance |
| rs755760581 | 1:226,036,215 | G/A | — | uncertain significance |
| rs963993065 | 1:226,036,245 | G/A | — | uncertain significance |
| rs749565228 | 1:226,036,638 | C/T | — | uncertain significance |
| rs1669175835 | 1:226,036,665 | G/A | — | uncertain significance |
| rs557058925 | 1:226,036,700 | G/A | — | likely benign |
| rs1669179669 | 1:226,036,713 | C/T | — | uncertain significance |
| rs770412529 | 1:226,037,633 | A/T | — | uncertain significance |
| rs1454362149 | 1:226,037,651 | C/A | — | uncertain significance |
| rs2102815944 | 1:226,037,675 | T/C | — | uncertain significance |
| rs146840117 | 1:226,037,685 | C/T | — | likely benign |
| rs768300074 | 1:226,037,711 | T/C | — | uncertain significance |
| rs145863221 | 1:226,037,727 | C/T | — | uncertain significance |
| rs1052683946 | 1:226,037,769 | T/C | — | uncertain significance |
| rs115530894 | 1:226,037,778 | G/C | — | benign |
| rs2102663 | 1:226,038,188 | A/G | — | — |
| rs184515780 | 1:226,040,057 | G/A | intron variant | — |
| rs116201959 | 1:226,040,373 | G/A | — | likely benign |
| rs1009668 | 1:226,040,404 | C/A | missense variant | — |
| rs370524375 | 1:226,040,407 | T/A | — | likely benign |
| rs75188792 | 1:226,041,377 | G/A | — | benign |
| rs369519987 | 1:226,041,406 | C/T | — | likely benign |
| rs1576074651 | 1:226,041,428 | C/T | — | pathogenic |
| rs2102825771 | 1:226,041,452 | A/G | — | pathogenic |
| rs2464798931 | 1:226,041,470 | C/A | — | uncertain significance |
| rs1359753643 | 1:226,041,494 | T/G | — | uncertain significance |
| rs138154690 | 1:226,043,614 | A/C | — | likely benign |
| rs755162747 | 1:226,044,350 | T/C | — | uncertain significance |
| rs140423726 | 1:226,044,391 | A/G | — | benign |
| rs367878173 | 1:226,044,419 | A/G | — | likely benign |
| rs372366088 | 1:226,044,427 | G/C | — | uncertain significance |
| rs2464818453 | 1:226,044,428 | T/C | — | uncertain significance |
| rs1238990869 | 1:226,044,429 | T/G | — | uncertain significance |
| rs767993739 | 1:226,044,430 | T/G | — | uncertain significance |
| rs1669635655 | 1:226,044,431 | T/G | — | uncertain significance |
| rs139209425 | 1:226,044,674 | G/T | — | uncertain significance |
| rs1576080546 | 1:226,044,710 | A/T | — | pathogenic |
| rs1280595835 | 1:226,044,716 | T/G | — | uncertain significance |
| rs9919303 | 1:226,044,766 | A/G | — | benign |
| rs114874822 | 1:226,046,903 | G/A | — | uncertain significance |
| rs149848059 | 1:226,046,964 | T/C | — | benign |
| rs770381793 | 1:226,047,024 | G/A | — | uncertain significance |
| rs2464842689 | 1:226,047,038 | G/C | — | uncertain significance |
| rs1669900554 | 1:226,048,563 | C/A | — | uncertain significance |
| rs1576088379 | 1:226,048,668 | C/G | — | uncertain significance |
| rs146601568 | 1:226,048,678 | C/T | — | uncertain significance |
| rs1379588540 | 1:226,049,954 | G/T | — | uncertain significance |
| rs201548552 | 1:226,049,983 | G/C | — | likely benign |
| rs1176031079 | 1:226,050,060 | A/C | — | uncertain significance |
| rs116456190 | 1:226,050,219 | C/T | — | uncertain significance |
| rs550369429 | 1:226,050,229 | T/A | — | uncertain significance |
| rs114729361 | 1:226,050,512 | C/T | synonymous variant | — |
| rs201498073 | 1:226,050,537 | G/A | — | conflicting classifications of pathogenicity |
| rs1187811932 | 1:226,050,546 | G/A | — | uncertain significance |
| rs142373258 | 1:226,053,660 | C/T | — | likely benign |
| rs2102629480 | 1:226,054,351 | C/T | — | uncertain significance |
| rs115347439 | 1:226,054,381 | T/G | — | benign |
| rs763397871 | 1:226,054,831 | T/C | — | uncertain significance |
| rs762132510 | 1:226,054,850 | A/C | — | uncertain significance |
| rs750546958 | 1:226,054,854 | G/A | — | uncertain significance |
| rs2292564 | 1:226,055,595 | G/A | — | benign |
| rs1576101665 | 1:226,055,599 | C/T | — | pathogenic |
| rs116512693 | 1:226,055,604 | G/A | — | likely benign |
| rs1044933902 | 1:226,055,608 | T/C | — | uncertain significance |
| rs115600896 | 1:226,055,624 | C/T | — | conflicting classifications of pathogenicity |
| rs80287818 | 1:226,055,696 | C/T | — | likely benign |
| rs1302373634 | 1:226,055,725 | T/G | — | uncertain significance |
| rs1301761037 | 1:226,058,812 | C/T | — | uncertain significance |
| rs146795542 | 1:226,059,166 | G/A | — | — |
| rs768654557 | 1:226,059,728 | A/G | — | likely benign |
| rs185872681 | 1:226,061,013 | A/G | intron variant | — |
| rs371902873 | 1:226,062,015 | C/T | — | uncertain significance |
| rs2464945060 | 1:226,062,044 | A/G | — | likely benign |
| rs1670861963 | 1:226,065,148 | C/A | — | uncertain significance |
| rs72754986 | 1:226,065,191 | G/C | — | likely benign |
| rs753093672 | 1:226,065,204 | C/A | — | uncertain significance |
| rs749145507 | 1:226,065,238 | C/T | — | likely benign |
| rs756105944 | 1:226,065,267 | G/A | — | uncertain significance |
| rs148792346 | 1:226,066,575 | C/T | intron variant | — |
| rs149872866 | 1:226,069,074 | G/C | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.