HPS5

HPS5 biogenesis of lysosomal organelles complex 2 subunit 2

Summary

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

Known Variants835 total

rsidPosition (GRCh37)AllelesClassClinVar
rs185851096611:18,300,228T/C—uncertain significance
rs11245656411:18,300,361A/T—benign
rs88604806911:18,300,406A/C—uncertain significance
rs88604807111:18,300,469A/T—uncertain significance
rs88604807211:18,300,473A/C—uncertain significance
rs53781053211:18,300,590A/G—uncertain significance
rs75507835511:18,300,617T/G—uncertain significance
rs104662811:18,300,625G/A—benign
rs7908653611:18,300,727T/A—benign
rs14550759811:18,300,741T/C—likely benign
rs88604807311:18,300,774T/G—uncertain significance
rs104661511:18,300,954A/G—benign
rs185859487011:18,300,960T/C—uncertain significance
rs104661111:18,300,965G/T—benign
rs7460239611:18,300,986A/T—benign
rs14886283811:18,301,067C/T—likely benign
rs1241682111:18,301,129A/G—benign
rs1241958811:18,301,130G/A—benign
rs14695845711:18,301,153A/C—uncertain significance
rs88604807411:18,301,247G/A—uncertain significance
rs91611930511:18,301,272C/T—uncertain significance
rs77648486811:18,301,334G/T—uncertain significance
rs37153584211:18,301,359G/A—likely benign
rs36813050211:18,301,424T/C—likely benign
rs249432863811:18,301,432G/A—likely benign
rs20055668311:18,301,441G/A—likely benign
rs249432883911:18,301,446A/C—uncertain significance
rs20101783311:18,301,454C/T—uncertain significance
rs75418978811:18,301,455G/A—uncertain significance
rs77942815411:18,301,459G/A—likely benign
rs185864265711:18,301,473T/C—uncertain significance
rs185864424011:18,301,486G/A—likely benign
rs74721750111:18,301,497C/T—likely benign
rs37578275111:18,301,503G/T—likely benign
rs145436478411:18,301,506A/G—likely benign
rs77754592511:18,301,507A/T—likely benign
rs138886358611:18,301,508G/T—likely benign
rs1102460111:18,301,605T/C—benign
rs227199711:18,303,404T/C—benign
rs74912790711:18,303,478T/C—likely benign
rs119318183011:18,303,487C/T—likely benign
rs75707397711:18,303,490A/G—likely benign
rs249437403511:18,303,491T/C—uncertain significance
rs99428136311:18,303,494T/C—uncertain significance
rs137700488011:18,303,497C/T—uncertain significance
rs77877798111:18,303,509T/G—uncertain significance
rs249437446311:18,303,511A/G—likely benign
rs185903270711:18,303,526A/G—likely benign
rs20028168111:18,303,528C/T—uncertain significance
rs13903912611:18,303,529G/A—conflicting classifications of pathogenicity
rs6188428811:18,303,533G/Amissense variantlikely benign
rs249437528811:18,303,538G/C—likely benign
rs249437546911:18,303,541A/G—likely benign
rs76847439111:18,303,544C/T—likely benign
rs57413027711:18,303,562G/A—likely benign
rs86841056311:18,303,567G/A—conflicting classifications of pathogenicity
rs77339039811:18,303,569C/A—uncertain significance
rs213420394711:18,303,570C/T—uncertain significance
rs130363317911:18,303,577C/T—likely benign
rs36755547311:18,303,580T/C—likely benign
rs76779704511:18,303,583C/T—likely benign
rs75290536011:18,303,586T/C—likely benign
rs129218182511:18,303,592A/C—likely benign
rs7548217911:18,303,597G/A—likely benign
rs78011966511:18,303,600C/T—uncertain significance
rs11639457011:18,303,609T/C—likely benign
rs88604807511:18,303,612C/T—uncertain significance
rs249437884811:18,303,640C/A—likely benign
rs76926267411:18,303,649G/T—likely benign
rs77365433411:18,303,651G/C—uncertain significance
rs140947905111:18,303,653G/A—uncertain significance
rs76695597111:18,303,658C/G—likely benign
rs185905504111:18,303,667G/C—likely benign
rs213420485711:18,303,685C/T—likely benign
rs92720755811:18,303,690G/A—pathogenic
rs20133364511:18,303,691G/C—likely benign
rs55822902011:18,303,703C/T—likely benign
rs37134705211:18,303,704G/A—uncertain significance
rs76098938711:18,303,708T/G—uncertain significance
rs14509697711:18,303,729G/A—uncertain significance
rs19977565911:18,303,730G/A—likely benign
rs75490501211:18,303,735G/T—uncertain significance
rs213420549711:18,303,746T/G—uncertain significance
rs36936819411:18,303,750C/T—uncertain significance
rs74969941611:18,303,751G/A—likely benign
rs77464322311:18,303,754C/G—uncertain significance
rs37201218711:18,303,760G/A—likely benign
rs213420572711:18,303,763C/T—pathogenic
rs249438365311:18,303,766A/C—likely benign
rs249438390211:18,303,775C/A—likely benign
rs76441838911:18,303,777C/T—conflicting classifications of pathogenicity
rs75400327111:18,303,778A/G—likely benign
rs185907496111:18,303,779C/A—likely benign
rs120954635511:18,303,783G/A—likely benign
rs249441321011:18,305,323C/T—likely benign
rs249441325111:18,305,326G/A—likely benign
rs76870168411:18,305,328T/C—likely benign
rs204912911:18,305,333C/T—benign
rs249441343911:18,305,334T/C—likely benign
rs249441347011:18,305,335G/A—likely benign

Showing 100 of 835 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.