PDZD8
PDZ domain containing 8
Summary
Predicted to enable lipid binding activity and zinc ion binding activity. Involved in several processes, including mitochondrial calcium ion homeostasis; mitochondrion-endoplasmic reticulum membrane tethering; and regulation of cell morphogenesis. Located in endoplasmic reticulum membrane and mitochondria-associated endoplasmic reticulum membrane contact site. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants67 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1589991818 | 10:119,042,855 | T/C | — | uncertain significance |
| rs746519248 | 10:119,042,927 | C/G | — | uncertain significance |
| rs143646854 | 10:119,043,053 | G/A | — | uncertain significance |
| rs780719586 | 10:119,043,078 | A/C | — | uncertain significance |
| rs763904248 | 10:119,043,229 | C/A | — | uncertain significance |
| rs1280760918 | 10:119,043,312 | C/T | — | likely benign |
| rs760282629 | 10:119,043,354 | C/T | — | uncertain significance |
| rs151329411 | 10:119,043,360 | C/A | — | uncertain significance |
| rs140922572 | 10:119,043,458 | T/C | — | uncertain significance |
| rs921863061 | 10:119,043,471 | T/C | — | uncertain significance |
| rs370805697 | 10:119,043,555 | G/C | — | uncertain significance |
| rs745773729 | 10:119,043,798 | G/A | — | uncertain significance |
| rs372220170 | 10:119,043,833 | T/C | — | uncertain significance |
| rs1844619982 | 10:119,043,877 | A/C | — | uncertain significance |
| rs148069855 | 10:119,043,887 | T/C | — | uncertain significance |
| rs779972348 | 10:119,043,929 | C/T | — | uncertain significance |
| rs777238857 | 10:119,043,969 | C/G | — | uncertain significance |
| rs750185720 | 10:119,043,998 | G/A | — | likely benign |
| rs754521481 | 10:119,044,038 | G/A | — | uncertain significance |
| rs776046688 | 10:119,044,047 | T/G | — | uncertain significance |
| rs763035495 | 10:119,044,134 | T/C | — | uncertain significance |
| rs906264981 | 10:119,044,226 | G/A | — | uncertain significance |
| rs1318446453 | 10:119,044,233 | C/A | — | uncertain significance |
| rs199591538 | 10:119,044,310 | G/A | — | uncertain significance |
| rs373053186 | 10:119,044,362 | C/A | — | uncertain significance |
| rs1428504949 | 10:119,044,476 | G/A | — | uncertain significance |
| rs375672660 | 10:119,044,503 | G/A | — | uncertain significance |
| rs576585111 | 10:119,044,586 | G/A | — | uncertain significance |
| rs1313241237 | 10:119,044,647 | G/T | — | uncertain significance |
| rs34094598 | 10:119,044,653 | T/C | — | likely benign |
| rs540262539 | 10:119,044,718 | T/C | — | uncertain significance |
| rs116296893 | 10:119,044,793 | C/T | — | uncertain significance |
| rs529025262 | 10:119,044,794 | C/T | — | uncertain significance |
| rs151173634 | 10:119,044,800 | C/T | — | likely benign |
| rs775072386 | 10:119,044,868 | T/C | — | uncertain significance |
| rs200748110 | 10:119,044,882 | T/C | — | likely benign |
| rs751323440 | 10:119,049,707 | G/A | — | likely benign |
| rs1014890598 | 10:119,049,715 | G/C | — | uncertain significance |
| rs1844733560 | 10:119,049,732 | T/A | — | uncertain significance |
| rs1175321979 | 10:119,049,789 | T/C | — | uncertain significance |
| rs2803810 | 10:119,061,875 | C/G | intron variant | — |
| rs753448064 | 10:119,078,384 | G/A | — | uncertain significance |
| rs138899307 | 10:119,078,391 | T/G | — | uncertain significance |
| rs764159166 | 10:119,078,414 | C/G | — | uncertain significance |
| rs756662160 | 10:119,100,536 | G/A | — | uncertain significance |
| rs2493715358 | 10:119,100,587 | G/A | — | uncertain significance |
| rs770780478 | 10:119,100,592 | G/C | — | pathogenic |
| rs75703943 | 10:119,116,363 | A/G | upstream gene variant | — |
| rs777992301 | 10:119,133,942 | T/C | — | uncertain significance |
| rs765992089 | 10:119,133,972 | C/A | — | uncertain significance |
| rs1442760700 | 10:119,134,013 | G/T | — | uncertain significance |
| rs753171090 | 10:119,134,024 | T/A | — | uncertain significance |
| rs1589602685 | 10:119,134,201 | C/T | — | uncertain significance |
| rs1408291818 | 10:119,134,209 | G/A | — | uncertain significance |
| rs1845261755 | 10:119,134,213 | C/T | — | uncertain significance |
| rs766651698 | 10:119,134,330 | C/T | — | uncertain significance |
| rs965826873 | 10:119,134,358 | G/C | — | uncertain significance |
| rs1845266185 | 10:119,134,390 | G/A | — | uncertain significance |
| rs73393113 | 10:119,134,433 | G/A | — | benign |
| rs1845268049 | 10:119,134,443 | T/C | — | uncertain significance |
| rs773816941 | 10:119,134,480 | G/C | — | uncertain significance |
| rs759799604 | 10:119,134,490 | G/C | — | likely benign |
| rs2133903116 | 10:119,134,498 | T/G | — | uncertain significance |
| rs753225165 | 10:119,134,521 | G/A | — | uncertain significance |
| rs1027031223 | 10:119,134,620 | C/G | — | uncertain significance |
| rs759137366 | 10:119,134,647 | G/C | — | uncertain significance |
| rs368514233 | 10:119,134,673 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.