PEX16

peroxisomal biogenesis factor 16

Summary

The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis. Alternative splicing has been observed for this gene and two variants have been described. [provided by RefSeq, Jul 2008]

Known Variants483 total

rsidPosition (GRCh37)AllelesClassClinVar
rs228032911:45,931,206T/C—benign
rs7290247811:45,931,218C/T—likely benign
rs77022334111:45,931,248C/G—uncertain significance
rs88604832411:45,931,314C/T—uncertain significance
rs228032811:45,931,367G/A—benign
rs14386812511:45,931,429C/T—uncertain significance
rs55930023711:45,931,464G/A—uncertain significance
rs87932061111:45,931,481C/T—uncertain significance
rs88604832511:45,931,496C/G—uncertain significance
rs1083852911:45,931,502A/G—benign
rs88604832611:45,931,528G/A—uncertain significance
rs37509970311:45,931,630G/T—uncertain significance
rs76136208911:45,931,635C/T—likely benign
rs7850882211:45,931,646G/A—likely benign
rs7943520211:45,931,647T/G—likely benign
rs74625930511:45,931,682T/C—likely benign
rs20151369111:45,931,698G/A—uncertain significance
rs14107093911:45,931,727C/T—likely benign
rs53076214011:45,931,735G/C—conflicting classifications of pathogenicity
rs1693841311:45,931,740A/G—likely benign
rs36997450911:45,931,752G/C—uncertain significance
rs20112719511:45,931,795G/A—likely benign
rs103793018811:45,931,804G/A—likely benign
rs76738337211:45,931,810C/G—uncertain significance
rs14489751511:45,931,814A/G—conflicting classifications of pathogenicity
rs208676241611:45,931,815C/T—uncertain significance
rs14665701011:45,931,817G/A—conflicting classifications of pathogenicity
rs249487536111:45,931,819A/G—uncertain significance
rs20054697711:45,931,820G/A—conflicting classifications of pathogenicity
rs39751447211:45,931,824T/C—pathogenic
rs75070451211:45,931,838G/C—likely benign
rs213468549411:45,931,841G/A—likely benign
rs249487546111:45,931,844C/T—likely benign
rs249487547711:45,931,850A/G—likely benign
rs75863611511:45,931,854A/G—uncertain significance
rs88685078311:45,931,855T/C—uncertain significance
rs37079237411:45,931,856G/A—likely benign
rs75190483111:45,931,859C/T—likely benign
rs249487558611:45,931,867C/A—likely benign
rs249487559111:45,931,868A/T—uncertain significance
rs249487560211:45,931,871G/A—likely benign
rs129909533211:45,931,872G/A—likely benign
rs208676323811:45,931,875G/C—likely benign
rs249487564411:45,931,878G/A—likely benign
rs142907882311:45,931,883C/T—likely benign
rs153361311:45,932,246G/A—benign
rs78161833611:45,932,429G/A—likely benign
rs36934129911:45,932,430C/T—likely benign
rs11206855311:45,932,431G/A—likely benign
rs77835757311:45,932,434C/A—likely benign
rs118163861511:45,932,437A/G—likely benign
rs98986710611:45,932,439C/T—likely benign
rs74883793411:45,932,440C/T—likely benign
rs75677379311:45,932,441C/A—likely benign
rs56056318711:45,932,443G/A—uncertain significance
rs213468661611:45,932,446T/G—uncertain significance
rs26760818511:45,932,447A/G—pathogenic
rs249487833311:45,932,453G/A—likely benign
rs77537191611:45,932,455C/T—uncertain significance
rs208677067611:45,932,456C/T—likely benign
rs15077418911:45,932,458G/A—likely benign
rs249487839511:45,932,459G/A—likely benign
rs74752198011:45,932,464C/T—uncertain significance
rs94843485211:45,932,465G/A—likely benign
rs249487849711:45,932,466C/A—uncertain significance
rs77650696211:45,932,468A/C—likely benign
rs76641668011:45,932,471G/A—likely benign
rs77139211411:45,932,473C/T—uncertain significance
rs77450536111:45,932,474G/A—likely benign
rs249487867511:45,932,478T/A—uncertain significance
rs74978517911:45,932,479C/G—uncertain significance
rs37715199811:45,932,480G/A—likely benign
rs208677206511:45,932,482C/T—uncertain significance
rs75310922411:45,932,483C/G—uncertain significance
rs121906277011:45,932,488A/G—likely benign
rs143197595211:45,932,489C/G—uncertain significance
rs159079343411:45,932,492G/A—likely benign
rs208677234311:45,932,495C/G—likely benign
rs249487924511:45,932,498G/A—likely benign
rs36973846711:45,932,501G/A—likely benign
rs249487930811:45,932,504G/A—likely benign
rs88727886411:45,932,509T/C—uncertain significance
rs208677258511:45,932,510G/A—likely benign
rs77847808511:45,932,514C/G—likely pathogenic
rs208677278611:45,932,515T/G—likely pathogenic
rs20147935811:45,932,516G/T—uncertain significance
rs208677284911:45,932,517G/C—likely benign
rs89039585111:45,932,520G/A—likely benign
rs249487950011:45,932,522G/T—likely benign
rs249487953111:45,932,523G/A—likely benign
rs249487954311:45,932,524C/G—likely benign
rs156507925811:45,932,525A/C—likely benign
rs249487958111:45,932,527T/C—likely benign
rs249487960611:45,932,530A/G—likely benign
rs77953697911:45,932,531T/G—likely benign
rs7673091611:45,932,762C/T—benign
rs1103870811:45,932,800T/A—benign
rs227184511:45,935,253T/C—benign
rs249489195611:45,935,356T/C—likely benign
rs249489197511:45,935,360G/A—likely benign

Showing 100 of 483 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.