C8orf34

chromosome 8 open reading frame 34

Summary

This gene encodes a protein that is related to the cyclic AMP dependent protein kinase regulators. Naturally occurring mutations in this gene are associated with an increased risk for severe toxicities, such as diarrhea and neutropenia, in patients undergoing chemotherapeutic treatment. [provided by RefSeq, Mar 2017]

Known Variants16 total

rsidPosition (GRCh37)AllelesClassClinVar
rs12189888718:69,243,304C/G—uncertain significance
rs15171218:69,258,760T/Cintron variant—
rs7509296398:69,358,665A/G—uncertain significance
rs15171148:69,389,217C/Gintron variant—
rs778377318:69,440,173T/Cupstream gene variant—
rs96928128:69,470,800G/Aintron variant—
rs78252718:69,563,695G/A——
rs173872798:69,570,332T/Gintron variant—
rs18654428:69,574,165C/Tintron variant—
rs169348828:69,577,637C/Aintron variant—
rs78464388:69,578,824A/Gintron variant—
rs726667668:69,580,612A/Gintron variant—
rs102829838:69,590,554C/Tintron variant—
rs1996681148:69,633,593T/C—likely benign
rs64724198:69,671,650T/Aintron variant—
rs169351108:69,730,719A/T3 prime UTR variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.

C8ORF34 — chromosome 8 open reading frame 34