CHTF18

chromosome transmission fidelity factor 18

Summary

This gene encodes a protein which is a component of a replication factor C (RFC) complex, which loads proliferating cell nuclear antigen (PCNA) on to DNA during the S phase of cell cycle. The encoded protein may interact with other proteins, including RFC complex 3, to form a clamp loader complex that plays a role in sister chromatid cohesion during metaphase-anaphase transition. [provided by RefSeq, Jan 2016]

Known Variants133 total

rsidPosition (GRCh37)AllelesClassClinVar
rs54995184016:836,765C/Tupstream gene variant—
rs76545019316:838,691G/A—uncertain significance
rs74817803216:838,710G/A—likely benign
rs76745730516:838,727T/A—uncertain significance
rs254430467216:838,730C/A—uncertain significance
rs55315258316:838,931G/A—uncertain significance
rs75290005316:838,948C/T—uncertain significance
rs78080054416:838,957G/T—uncertain significance
rs75294965416:838,985C/G—likely benign
rs76753365716:839,009C/T—uncertain significance
rs75563897216:839,011A/G—likely benign
rs94011249216:839,124C/G—uncertain significance
rs78048240016:839,264C/T—uncertain significance
rs75557720016:839,271G/T—uncertain significance
rs77909140316:839,272A/T—uncertain significance
rs37327098116:839,292C/G—likely benign
rs254431138416:839,309A/C—uncertain significance
rs254431161416:839,326A/G—uncertain significance
rs37414472616:839,329C/T—uncertain significance
rs74552055316:839,568C/G—uncertain significance
rs20121545516:839,569G/C—uncertain significance
rs52940476716:839,605C/G—uncertain significance
rs36977299916:839,617C/T—uncertain significance
rs55151310516:839,630T/C—uncertain significance
rs77202471116:839,637C/G—uncertain significance
rs74590673016:839,639A/G—uncertain significance
rs7803834916:839,646C/T—benign
rs76174857716:839,647G/A—uncertain significance
rs75341715416:839,662G/A—uncertain significance
rs37358723716:839,671G/T—uncertain significance
rs36886175916:839,686C/T—uncertain significance
rs75909845516:839,705C/T—uncertain significance
rs227789916:839,838A/T——
rs11414086816:840,267G/A—benign
rs20089169216:840,347C/T—uncertain significance
rs37028039916:840,350C/T—uncertain significance
rs76600947516:840,353G/A—uncertain significance
rs14345056016:840,532T/C—benign
rs20185022016:840,548C/T—uncertain significance
rs76531460416:840,566C/T—uncertain significance
rs37086704616:840,568C/A—uncertain significance
rs13953845516:840,580C/T—uncertain significance
rs18539456516:840,581C/T—likely benign
rs6175409716:840,624T/A—benign
rs18866686516:841,157G/T—likely benign
rs54425806816:841,168A/G—uncertain significance
rs76034276716:841,174G/A—uncertain significance
rs19987807916:841,233C/G—uncertain significance
rs15127119716:841,238G/A—benign
rs37750548216:841,330T/C—uncertain significance
rs123980413816:841,335G/A—uncertain significance
rs74674076616:841,912G/A—uncertain significance
rs36958764216:841,917G/A—uncertain significance
rs37717796616:841,927C/T—uncertain significance
rs20043060216:841,928T/A—likely benign
rs77169636816:842,231C/T—uncertain significance
rs20060138116:842,249C/A—uncertain significance
rs121476852716:842,298G/C—uncertain significance
rs204221913516:842,300G/A—uncertain significance
rs128209159816:842,345G/A—uncertain significance
rs77377938016:842,463A/G—uncertain significance
rs36766866416:842,473G/A—uncertain significance
rs75668442016:842,479G/C—uncertain significance
rs20157042016:842,530G/A—uncertain significance
rs36902559616:842,532C/T—uncertain significance
rs20139697516:842,550G/T—uncertain significance
rs54783871016:842,577A/G—uncertain significance
rs19983640716:843,014C/T—uncertain significance
rs18365444516:843,016C/A—benign
rs74852434616:843,157G/A—uncertain significance
rs75894315616:843,160G/A—uncertain significance
rs20023305616:843,165C/T—uncertain significance
rs76135622716:843,181G/A—likely benign
rs37651299916:843,186G/T—uncertain significance
rs19972203116:843,199G/T—uncertain significance
rs37618606116:843,228C/T—uncertain significance
rs76895938616:843,235C/T—uncertain significance
rs77329803916:843,246G/A—uncertain significance
rs37099076916:843,264C/G—uncertain significance
rs36889317616:844,070G/A—uncertain significance
rs37773600116:844,076G/A—likely benign
rs100623216516:844,112G/C—uncertain significance
rs77447273016:844,122C/T—uncertain significance
rs37481141616:844,128C/T—uncertain significance
rs37133237416:844,140A/G—uncertain significance
rs75128698416:844,151C/T—uncertain significance
rs75700889416:844,152G/C—uncertain significance
rs19980963216:844,161A/T—uncertain significance
rs204230132716:845,148T/G—uncertain significance
rs56585077116:845,154G/T—uncertain significance
rs76023433616:845,159C/T—uncertain significance
rs135599107616:845,241A/G—uncertain significance
rs120913769916:845,276C/T—uncertain significance
rs6175337416:845,278C/T—benign
rs139989472416:845,310C/T—uncertain significance
rs77819779416:845,695G/A—uncertain significance
rs76739007716:845,725C/T—uncertain significance
rs74932987816:845,743C/T—uncertain significance
rs57045973916:845,746C/T—uncertain significance
rs76623328416:845,752C/T—uncertain significance

Showing 100 of 133 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.