RNF135

ring finger protein 135

Summary

The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. This gene is located in a chromosomal region known to be frequently deleted in patients with neurofibromatosis. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

Known Variants74 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7281167217:29,287,672T/Cdownstream gene variant—
rs19294496917:29,297,731T/C—likely benign
rs11476380917:29,297,875C/T—likely benign
rs722147317:29,297,910C/G—benign
rs18513994017:29,297,928T/C—likely benign
rs37198215217:29,298,096C/T—uncertain significance
rs190586503117:29,298,111G/C—uncertain significance
rs99496839817:29,298,147T/C—uncertain significance
rs74577594817:29,298,160C/A—likely benign
rs55914331617:29,298,215C/T—conflicting classifications of pathogenicity
rs57083935317:29,298,220C/T—likely benign
rs119805111217:29,298,243C/G—uncertain significance
rs126381791417:29,298,287G/T—uncertain significance
rs92699515817:29,298,289C/T—likely benign
rs37417104617:29,298,291C/G—uncertain significance
rs722588817:29,298,304C/G—benign
rs75122998617:29,298,309G/A—uncertain significance
rs57450292517:29,298,328G/A—likely benign
rs74989316617:29,298,331C/G—uncertain significance
rs75603020217:29,298,332C/T—likely benign
rs129253034517:29,298,356G/A—uncertain significance
rs254433670617:29,298,357C/A—uncertain significance
rs37682309417:29,298,383C/G—likely benign
rs36808002317:29,298,390A/G—likely benign
rs145213965217:29,298,399G/T—uncertain significance
rs721144017:29,298,413T/C—benign
rs11190226317:29,298,435G/A—benign
rs76568058517:29,298,437C/T—uncertain significance
rs77421102217:29,298,447G/A—uncertain significance
rs722496017:29,298,451G/T—benign
rs214265125717:29,298,464G/T—uncertain significance
rs13822623217:29,298,604T/C—likely benign
rs7567445617:29,298,605C/T—likely benign
rs76333912417:29,311,639C/T—likely benign
rs76711993817:29,311,651G/A—uncertain significance
rs14083412617:29,311,758G/A—uncertain significance
rs991205917:29,311,956G/C—likely benign
rs6038348917:29,314,737T/C—likely benign
rs14119175117:29,314,963C/G—uncertain significance
rs6050193417:29,314,972C/G—likely benign
rs116037376917:29,314,977G/A—uncertain significance
rs14153358317:29,315,018C/T—likely benign
rs190770850917:29,315,020C/T—uncertain significance
rs74831601317:29,315,042T/G—uncertain significance
rs14283697217:29,315,049C/T—likely benign
rs56738740217:29,315,088G/A—uncertain significance
rs55803780817:29,315,113C/T—uncertain significance
rs76099235817:29,315,114A/G—benign
rs722097817:29,315,193G/C—benign
rs13790795317:29,315,425C/A—likely benign
rs650522417:29,320,775A/T—benign
rs7326778617:29,324,169G/A—benign
rs12191816117:29,324,307C/Tstop gaineduncertain significance
rs72415997717:29,324,322——uncertain significance
rs77216822717:29,324,338G/A—likely benign
rs74952006117:29,325,673T/C—uncertain significance
rs76270464117:29,325,713T/C—uncertain significance
rs54009161217:29,325,722G/A—uncertain significance
rs75675886817:29,325,726G/A—likely benign
rs74903327217:29,325,746G/A—uncertain significance
rs75522804217:29,325,751G/A—uncertain significance
rs159810645417:29,325,756T/C—likely benign
rs14976073917:29,325,766C/T—benign
rs12191816217:29,325,767G/Amissense variantuncertain significance
rs122116308217:29,325,770C/T—uncertain significance
rs99211978217:29,325,856G/A—uncertain significance
rs254442510217:29,325,865A/G—uncertain significance
rs74628273617:29,325,918C/T—likely benign
rs14868256617:29,325,919G/A—uncertain significance
rs156775161317:29,326,144C/T—uncertain significance
rs20101901917:29,326,150T/C—uncertain significance
rs6174986817:29,326,155G/T—likely benign
rs1022120117:29,326,501C/T—benign
rs18625504717:29,335,635C/T—likely benign

Gene information from NCBI Gene. Variant classifications from ClinVar.