KLHDC8B
kelch domain containing 8B
Summary
This gene encodes a protein which forms a distinct beta-propeller protein structure of kelch domains allowing for protein-protein interactions. Mutations in this gene have been associated with Hodgkin lymphoma. [provided by RefSeq, Sep 2010]
Known Variants86 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs9813813 | 3:49,207,093 | T/A | upstream gene variant | — |
| rs387906223 | 3:49,209,095 | C/T | — | pathogenic |
| rs2045778895 | 3:49,210,194 | G/T | — | uncertain significance |
| rs890918654 | 3:49,210,221 | C/T | — | uncertain significance |
| rs201475255 | 3:49,210,244 | C/T | — | likely benign |
| rs946616957 | 3:49,210,263 | C/T | — | uncertain significance |
| rs747102634 | 3:49,210,270 | A/G | — | uncertain significance |
| rs373852462 | 3:49,210,324 | G/A | — | uncertain significance |
| rs2470615701 | 3:49,210,336 | C/T | — | uncertain significance |
| rs775044801 | 3:49,210,366 | C/T | — | uncertain significance |
| rs765576569 | 3:49,210,369 | C/T | — | uncertain significance |
| rs750808403 | 3:49,210,371 | C/T | — | uncertain significance |
| rs758765503 | 3:49,210,373 | C/T | — | likely benign |
| rs752076206 | 3:49,210,386 | C/T | — | likely benign |
| rs368617575 | 3:49,210,402 | C/T | — | uncertain significance |
| rs548119617 | 3:49,210,408 | G/A | — | uncertain significance |
| rs569675399 | 3:49,210,424 | G/T | — | likely benign |
| rs1433656318 | 3:49,210,452 | G/T | — | uncertain significance |
| rs556212641 | 3:49,210,481 | G/A | — | benign |
| rs2045783947 | 3:49,210,506 | A/T | — | uncertain significance |
| rs1427204851 | 3:49,210,514 | G/A | — | likely benign |
| rs760075849 | 3:49,210,518 | C/T | — | uncertain significance |
| rs756090460 | 3:49,210,527 | C/T | — | uncertain significance |
| rs1419742528 | 3:49,210,528 | G/A | — | uncertain significance |
| rs2470616979 | 3:49,210,564 | C/T | — | uncertain significance |
| rs7617480 | 3:49,210,732 | A/C | regulatory region variant | — |
| rs370420816 | 3:49,211,657 | C/A | — | likely benign |
| rs373826807 | 3:49,211,659 | C/A | — | likely benign |
| rs2470619705 | 3:49,211,674 | G/A | — | uncertain significance |
| rs2045797845 | 3:49,211,695 | G/A | — | uncertain significance |
| rs975853557 | 3:49,211,709 | C/T | — | likely benign |
| rs758067429 | 3:49,211,714 | C/T | — | uncertain significance |
| rs1260456643 | 3:49,211,715 | C/G | — | likely benign |
| rs780074938 | 3:49,211,731 | C/T | — | conflicting classifications of pathogenicity |
| rs746893535 | 3:49,211,732 | G/A | — | uncertain significance |
| rs1249288296 | 3:49,211,736 | G/A | — | likely benign |
| rs769576338 | 3:49,211,749 | C/T | — | uncertain significance |
| rs994566794 | 3:49,211,756 | G/A | — | uncertain significance |
| rs2470620180 | 3:49,211,760 | G/A | — | uncertain significance |
| rs149570292 | 3:49,211,765 | C/T | — | uncertain significance |
| rs375567221 | 3:49,211,766 | G/A | — | likely benign |
| rs776104000 | 3:49,211,773 | T/G | — | likely benign |
| rs199808095 | 3:49,211,781 | C/T | — | likely benign |
| rs199949878 | 3:49,211,814 | C/T | — | likely benign |
| rs200254776 | 3:49,211,815 | G/A | — | uncertain significance |
| rs201859787 | 3:49,211,827 | T/C | — | uncertain significance |
| rs375640730 | 3:49,211,853 | T/C | — | likely benign |
| rs140099356 | 3:49,212,197 | G/A | — | likely benign |
| rs1212848066 | 3:49,212,213 | G/A | — | uncertain significance |
| rs529219238 | 3:49,212,231 | C/T | — | uncertain significance |
| rs747383150 | 3:49,212,232 | G/A | — | uncertain significance |
| rs2470622636 | 3:49,212,233 | T/A | — | likely benign |
| rs368130572 | 3:49,212,236 | A/G | — | likely benign |
| rs1159325404 | 3:49,212,264 | C/G | — | uncertain significance |
| rs2470622848 | 3:49,212,279 | G/A | — | uncertain significance |
| rs2470622949 | 3:49,212,294 | G/A | — | uncertain significance |
| rs763727189 | 3:49,212,302 | C/T | — | likely benign |
| rs1437416167 | 3:49,212,310 | G/A | — | uncertain significance |
| rs146679886 | 3:49,212,350 | C/T | — | likely benign |
| rs748760709 | 3:49,212,354 | C/T | — | uncertain significance |
| rs201206162 | 3:49,212,355 | G/A | — | uncertain significance |
| rs201696469 | 3:49,212,365 | T/C | — | benign |
| rs1227919491 | 3:49,212,388 | A/T | — | uncertain significance |
| rs1282637457 | 3:49,212,402 | G/A | — | uncertain significance |
| rs186319137 | 3:49,212,478 | C/T | — | benign |
| rs765991228 | 3:49,212,515 | C/T | — | uncertain significance |
| rs1052033483 | 3:49,212,525 | G/A | — | uncertain significance |
| rs1161727920 | 3:49,212,541 | G/A | — | likely benign |
| rs761784731 | 3:49,212,571 | C/A | — | likely benign |
| rs762395605 | 3:49,212,585 | T/C | — | uncertain significance |
| rs371269941 | 3:49,212,605 | C/T | — | likely benign |
| rs2470624509 | 3:49,212,609 | G/A | — | likely benign |
| rs888416731 | 3:49,212,615 | G/A | — | likely benign |
| rs751183948 | 3:49,212,616 | G/C | — | likely benign |
| rs11713297 | 3:49,213,030 | T/C | — | benign |
| rs561774828 | 3:49,213,031 | C/G | — | likely benign |
| rs371041902 | 3:49,213,034 | G/A | — | likely benign |
| rs749203464 | 3:49,213,085 | C/T | — | uncertain significance |
| rs1014237716 | 3:49,213,089 | G/A | — | uncertain significance |
| rs1313509295 | 3:49,213,092 | G/A | — | uncertain significance |
| rs1364412070 | 3:49,213,109 | G/A | — | uncertain significance |
| rs763538727 | 3:49,213,158 | G/A | — | uncertain significance |
| rs1455703150 | 3:49,213,176 | G/T | — | uncertain significance |
| rs537881307 | 3:49,213,202 | G/A | — | uncertain significance |
| rs951816662 | 3:49,213,211 | C/G | — | uncertain significance |
| rs13084037 | 3:49,214,066 | G/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.