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/Guncertain significance
rs15171218:69,258,760T/Cintron variant
rs7509296398:69,358,665A/Guncertain 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/Clikely benign
rs64724198:69,671,650T/Aintron variant
rs169351108:69,730,719A/T3 prime UTR variant

Gene information from NCBI Gene. Variant classifications from ClinVar.