VWA8

von Willebrand factor A domain containing 8

Summary

Predicted to enable ATP hydrolysis activity. Located in mitochondrion and peroxisome. [provided by Alliance of Genome Resources, Apr 2025]

Known Variants82 total

rsidPosition (GRCh37)AllelesClassClinVar
rs37146423913:42,144,715T/G—uncertain significance
rs36789823213:42,144,747A/C—uncertain significance
rs1242768513:42,146,458T/Cupstream gene variant—
rs959061413:42,175,588G/Cintron variant—
rs55692717613:42,176,910C/A——
rs7346495213:42,189,142T/C—likely pathogenic
rs37686179013:42,245,097A/G—likely benign
rs75912224413:42,245,100T/C—likely benign
rs37011295913:42,245,135G/A—likely pathogenic
rs159368703113:42,245,226T/C—likely benign
rs7816181013:42,259,195T/G—benign
rs156641701213:42,266,081A/G—likely pathogenic
rs6173377513:42,267,071G/A—benign
rs77344335513:42,293,738C/G—uncertain significance
rs14818199813:42,293,761C/T—uncertain significance
rs254331668913:42,293,770T/A—uncertain significance
rs37177046213:42,293,773C/T—no classification for the single variant
rs254331672913:42,293,792A/C—uncertain significance
rs124570000313:42,293,820T/C—uncertain significance
rs77922984813:42,295,658C/T—uncertain significance
rs6175656013:42,295,659G/A—benign
rs52809050313:42,295,693T/A—uncertain significance
rs6196489213:42,300,560T/Cintron variant—
rs146385007713:42,301,405G/A—uncertain significance
rs75015271013:42,303,709C/A—uncertain significance
rs254333077313:42,303,737A/G—uncertain significance
rs11424807513:42,303,821G/A—benign
rs77897372113:42,306,242G/A—uncertain significance
rs75355628613:42,306,245C/T—uncertain significance
rs37253252613:42,306,267C/T—likely benign
rs76265892713:42,335,322T/A—uncertain significance
rs956684513:42,336,080G/Aintron variant—
rs7825939813:42,352,171T/Cmissense variant—
rs76509505213:42,357,986T/C—uncertain significance
rs53529842613:42,361,654C/T—uncertain significance
rs187045304213:42,385,383C/T—uncertain significance
rs13807545213:42,385,421C/T—conflicting classifications of pathogenicity
rs14957185213:42,385,433C/T—uncertain significance
rs125868583013:42,385,461C/G—uncertain significance
rs20145425713:42,393,436C/T—uncertain significance
rs77744069413:42,404,716T/C—uncertain significance
rs14583535813:42,404,754G/C—uncertain significance
rs37526693013:42,407,541G/A—uncertain significance
rs187156252513:42,407,547T/C—uncertain significance
rs76371887513:42,407,566C/G—uncertain significance
rs11434667113:42,407,602C/A—benign
rs36977871713:42,407,654C/T—uncertain significance
rs132708817913:42,424,775T/C——
rs956686713:42,428,899G/Aintron variant—
rs254183654213:42,439,931T/C—uncertain significance
rs76950845613:42,440,070T/C—uncertain significance
rs14962465013:42,440,127G/A—uncertain significance
rs14433556113:42,440,134C/T—likely benign
rs14879776113:42,440,135G/A—uncertain significance
rs1706260113:42,440,163C/T—benign
rs953293913:42,440,496T/Aintron variant—
rs74730383213:42,442,487T/G—uncertain significance
rs76985905013:42,442,511G/A—uncertain significance
rs14026849413:42,442,519A/G—uncertain significance
rs15036268613:42,442,612C/A—uncertain significance
rs77981575213:42,460,061T/C—uncertain significance
rs11474119213:42,460,074T/A—benign
rs54986789613:42,460,084T/C—uncertain significance
rs37590247413:42,460,938C/T—uncertain significance
rs37696683013:42,465,575C/T—uncertain significance
rs20080368213:42,465,597G/T—uncertain significance
rs124754563913:42,465,615T/C—uncertain significance
rs11301662713:42,481,729A/C—uncertain significance
rs20197774213:42,481,751G/A—uncertain significance
rs14254335013:42,481,820G/A—uncertain significance
rs132355219013:42,486,196C/A—uncertain significance
rs37308290013:42,486,197G/A—uncertain significance
rs190044213:42,505,674T/Cregulatory region variant—
rs6196312313:42,512,639T/Cintron variant—
rs254191093213:42,524,108T/C—uncertain significance
rs14308826313:42,534,981C/T—benign
rs134624488213:42,535,027T/C—uncertain significance
rs96635345513:42,535,057C/A—uncertain significance
rs54375221113:42,535,109C/T—uncertain significance
rs144194655513:42,535,121G/A—uncertain significance
rs77321923213:42,535,127C/G—likely benign
rs254192985113:42,535,130G/A—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.