CYBA

cytochrome b-245 alpha chain

Summary

Cytochrome b is comprised of a light chain (alpha) and a heavy chain (beta). This gene encodes the light, alpha subunit which has been proposed as a primary component of the microbicidal oxidase system of phagocytes. Mutations in this gene are associated with autosomal recessive chronic granulomatous disease (CGD), that is characterized by the failure of activated phagocytes to generate superoxide, which is important for the microbicidal activity of these cells. [provided by RefSeq, Jul 2008]

Known Variants335 total

rsidPosition (GRCh37)AllelesClassClinVar
rs719583016:88,709,712A/Gregulatory region variantbenign
rs104925516:88,709,737C/Tregulatory region variantbenign
rs77867180516:88,709,766C/T—uncertain significance
rs96022044716:88,709,767G/A—likely benign
rs74799443316:88,709,772C/T—uncertain significance
rs75831411516:88,709,773G/A—likely benign
rs77767628316:88,709,775C/G—uncertain significance
rs115903447216:88,709,776G/A—likely benign
rs250752080716:88,709,779C/A—likely benign
rs140752945316:88,709,782C/T—likely benign
rs74672447716:88,709,783G/A—uncertain significance
rs77621638716:88,709,785G/A—likely benign
rs190715045716:88,709,788G/A—likely benign
rs145566269016:88,709,791G/A—likely benign
rs214286940416:88,709,794G/T—likely benign
rs115893702216:88,709,796C/T—uncertain significance
rs250752085416:88,709,797C/T—likely benign
rs132716085016:88,709,800G/C—likely benign
rs93966487616:88,709,801G/C—uncertain significance
rs214286943316:88,709,806T/G—likely benign
rs141378199016:88,709,808C/G—uncertain significance
rs131383414316:88,709,809C/T—likely benign
rs120797653616:88,709,810G/C—uncertain significance
rs120659529716:88,709,812G/A—likely benign
rs76922940916:88,709,818C/T—likely benign
rs129140739216:88,709,819C/G—uncertain significance
rs76227725116:88,709,821C/T—conflicting classifications of pathogenicity
rs77249277116:88,709,822G/A—uncertain significance
rs76652376416:88,709,824C/T—likely benign
rs75948210116:88,709,825G/A—uncertain significance
rs119944212016:88,709,827C/T—likely benign
rs104925416:88,709,828A/G—benign
rs75261388316:88,709,830C/T—likely benign
rs190715486816:88,709,833A/C—likely benign
rs135893640316:88,709,834G/C—uncertain significance
rs77776817316:88,709,838C/A—uncertain significance
rs57265491416:88,709,844C/T—uncertain significance
rs159737059316:88,709,845G/A—likely benign
rs89880901716:88,709,851C/T—likely benign
rs102167728016:88,709,854C/T—likely benign
rs136982960816:88,709,857G/A—likely benign
rs90461257516:88,709,858C/T—uncertain significance
rs75134007916:88,709,859G/A—uncertain significance
rs75697378216:88,709,861G/T—uncertain significance
rs190715688616:88,709,863C/G—uncertain significance
rs37663144716:88,709,866G/A—likely benign
rs7254728416:88,709,869C/T—benign
rs124788645716:88,709,870G/C—uncertain significance
rs190715783616:88,709,873G/A—uncertain significance
rs55822214816:88,709,874G/A—uncertain significance
rs100869943816:88,709,877G/A—uncertain significance
rs99269101016:88,709,878C/T—likely benign
rs96457557916:88,709,881C/G—likely benign
rs10489451516:88,709,882G/Amissense variantuncertain significance
rs11303308216:88,709,896C/T—likely benign
rs74871608116:88,709,897G/A—uncertain significance
rs98392348816:88,709,899C/T—likely benign
rs190716005016:88,709,901G/C—uncertain significance
rs214286983016:88,709,905G/A—likely benign
rs57656525816:88,709,916C/T—conflicting classifications of pathogenicity
rs76099107316:88,709,917G/A—likely benign
rs77120297116:88,709,923C/T—likely benign
rs90960006216:88,709,924G/A—uncertain significance
rs250752149316:88,709,925G/T—uncertain significance
rs124221558016:88,709,927C/T—uncertain significance
rs77676335616:88,709,928G/A—uncertain significance
rs75977104116:88,709,931C/T—uncertain significance
rs97254816916:88,709,934G/A—uncertain significance
rs76529758716:88,709,938C/T—likely benign
rs98219994016:88,709,941G/C—likely benign
rs138947091816:88,709,944C/T—likely benign
rs11461009216:88,709,946C/T—conflicting classifications of pathogenicity
rs76299524916:88,709,947G/C—uncertain significance
rs214286997616:88,709,948A/T—uncertain significance
rs136419125416:88,709,950G/A—likely benign
rs125118661816:88,709,951G/C—uncertain significance
rs93370183216:88,709,953C/A—likely benign
rs56230864316:88,709,954G/A—uncertain significance
rs128427113116:88,709,956C/T—pathogenic
rs214287005216:88,709,962C/T—likely benign
rs124676874016:88,709,964C/A—likely pathogenic
rs7254728516:88,709,965G/A—conflicting classifications of pathogenicity
rs1212316:88,709,968G/A—likely benign
rs75577968316:88,709,969C/A—uncertain significance
rs147189274916:88,709,970G/T—uncertain significance
rs141277589816:88,709,974A/G—likely benign
rs11910326916:88,709,976C/Tmissense variantpathogenic
rs77944706016:88,709,977C/T—likely benign
rs17936389416:88,709,978G/A—pathogenic
rs103178433516:88,709,982G/A—uncertain significance
rs56081077416:88,709,983C/T—likely benign
rs77820714316:88,709,984G/A—likely benign
rs74748801316:88,709,986G/A—likely benign
rs127983317316:88,709,987G/A—likely benign
rs102279629216:88,709,990C/T—uncertain significance
rs190716694016:88,709,992G/A—likely benign
rs214287018716:88,709,996G/T—likely benign
rs96995782716:88,709,997G/A—likely benign
rs190716727316:88,709,998T/G—likely benign
rs190716735516:88,709,999T/G—likely benign

Showing 100 of 335 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.