C14orf39

chromosome 14 open reading frame 39

Summary

Involved in homologous chromosome pairing at meiosis. Predicted to be located in chromosome. Predicted to be active in central element. Implicated in primary ovarian insufficiency 18 and spermatogenic failure 52. [provided by Alliance of Genome Resources, Jul 2025]

Known Variants22 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14516474514:60,903,623A/C—likely benign
rs125431914:60,903,757G/Tmissense variant—
rs125432114:60,906,747A/T——
rs125433714:60,920,525A/G——
rs13905445414:60,921,836T/G—likely benign
rs195111414:60,922,005C/T——
rs14933965314:60,923,714A/G—likely benign
rs189131529614:60,923,816G/C—pathogenic
rs36958807714:60,928,128A/G—uncertain significance
rs77633924414:60,928,266T/C—likely benign
rs1048372414:60,931,366C/Tintron variant—
rs99728204914:60,932,711C/A—pathogenic
rs14548572714:60,932,731T/C—uncertain significance
rs37227478814:60,936,324T/C—uncertain significance
rs189208155614:60,938,315T/G—uncertain significance
rs3554383914:60,938,319T/C—likely benign
rs7756983514:60,940,438C/G——
rs1013056814:60,944,849A/Tintron variant—
rs14863776014:60,950,509T/C—benign
rs222440814:60,957,171G/T——
rs209321014:60,957,279C/G——
rs96545414:60,960,251T/Cdownstream gene variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.