RAB39B
RAB39B, member RAS oncogene family
Summary
This gene encodes a member of the Rab family of proteins. Rab proteins are small GTPases that are involved in vesicular trafficking. Mutations in this gene are associated with X-linked cognitive disability. [provided by RefSeq, Aug 2013]
Known Variants69 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2074840717 | X:154,487,537 | A/G | — | uncertain significance |
| rs1482592329 | X:154,487,722 | C/T | — | uncertain significance |
| rs1057515827 | X:154,487,988 | G/A | — | uncertain significance |
| rs145867198 | X:154,488,143 | T/A | — | benign |
| rs782447828 | X:154,488,153 | C/T | — | uncertain significance |
| rs17052030 | X:154,488,275 | G/T | — | benign |
| rs1057515829 | X:154,488,360 | T/C | — | uncertain significance |
| rs3105275 | X:154,488,432 | G/A | — | benign |
| rs115301020 | X:154,488,508 | G/C | — | benign |
| rs181070478 | X:154,488,636 | A/G | — | conflicting classifications of pathogenicity |
| rs1057515831 | X:154,488,660 | A/C | — | uncertain significance |
| rs17052027 | X:154,488,741 | G/A | — | benign |
| rs147409916 | X:154,489,009 | T/G | — | benign |
| rs185958813 | X:154,489,048 | G/A | — | benign |
| rs138077054 | X:154,489,082 | T/C | — | benign |
| rs1222599497 | X:154,489,500 | T/C | — | uncertain significance |
| rs1057515833 | X:154,489,603 | A/C | — | uncertain significance |
| rs2074848966 | X:154,489,660 | G/A | — | uncertain significance |
| rs781919581 | X:154,489,749 | A/G | — | conflicting classifications of pathogenicity |
| rs147213132 | X:154,489,806 | C/A | — | benign |
| rs900423679 | X:154,490,023 | T/C | — | uncertain significance |
| rs1602912605 | X:154,490,145 | T/A | — | likely benign |
| rs864309527 | X:154,490,156 | C/T | missense variant | pathogenic |
| rs1716985931 | X:154,490,159 | T/C | — | uncertain significance |
| rs1557314191 | X:154,490,171 | C/A | — | pathogenic |
| rs2524213494 | X:154,490,179 | T/C | — | uncertain significance |
| rs1557314192 | X:154,490,182 | T/G | — | uncertain significance |
| rs369970931 | X:154,490,187 | T/C | — | likely benign |
| rs2124126393 | X:154,490,198 | C/T | — | uncertain significance |
| rs1296638357 | X:154,490,200 | C/T | — | uncertain significance |
| rs587777874 | X:154,490,227 | G/T | missense variant | pathogenic |
| rs782453421 | X:154,490,238 | G/A | — | uncertain significance |
| rs1030776072 | X:154,490,253 | A/G | — | likely benign |
| rs2124126522 | X:154,490,275 | G/A | — | uncertain significance |
| rs2074851805 | X:154,490,294 | C/T | — | uncertain significance |
| rs864309528 | X:154,490,302 | G/C | — | uncertain significance |
| rs1557314226 | X:154,490,344 | G/A | — | uncertain significance |
| rs957747020 | X:154,490,380 | A/G | — | conflicting classifications of pathogenicity |
| rs1557314233 | X:154,490,381 | C/A | — | uncertain significance |
| rs782592713 | X:154,490,400 | G/A | — | likely benign |
| rs1217915838 | X:154,490,417 | C/T | — | uncertain significance |
| rs782363257 | X:154,490,449 | C/T | — | uncertain significance |
| rs781954592 | X:154,490,450 | G/A | — | uncertain significance |
| rs1057515836 | X:154,490,457 | A/G | — | uncertain significance |
| rs370262046 | X:154,490,460 | G/A | — | likely benign |
| rs2524213812 | X:154,490,495 | A/G | — | uncertain significance |
| rs543054 | X:154,493,106 | A/G | — | benign |
| rs981086741 | X:154,493,346 | A/T | — | likely benign |
| rs1557314523 | X:154,493,349 | G/C | — | likely benign |
| rs1602914878 | X:154,493,350 | C/A | — | likely benign |
| rs377143859 | X:154,493,356 | C/T | — | conflicting classifications of pathogenicity |
| rs587776734 | X:154,493,358 | C/T | — | pathogenic |
| rs1569561107 | X:154,493,385 | C/A | — | likely pathogenic |
| rs2524215565 | X:154,493,386 | C/T | — | pathogenic |
| rs781889889 | X:154,493,448 | C/A | — | likely benign |
| rs137950464 | X:154,493,451 | C/A | — | likely benign |
| rs181687825 | X:154,493,478 | G/A | — | likely benign |
| rs143418001 | X:154,493,481 | A/G | — | likely benign |
| rs2074862064 | X:154,493,510 | A/C | — | uncertain significance |
| rs2124130247 | X:154,493,531 | C/G | — | uncertain significance |
| rs2524215732 | X:154,493,546 | G/A | — | uncertain significance |
| rs2074862117 | X:154,493,547 | G/C | — | uncertain significance |
| rs267606995 | X:154,493,553 | G/T | stop gained | pathogenic |
| rs1557314544 | X:154,493,572 | A/G | — | pathogenic |
| rs898651947 | X:154,493,634 | C/G | — | uncertain significance |
| rs2074862600 | X:154,493,635 | G/T | — | uncertain significance |
| rs1008244571 | X:154,493,657 | G/C | — | uncertain significance |
| rs140657165 | X:154,494,059 | A/G | — | benign |
| rs573572 | X:154,494,178 | C/T | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.