HPS1

HPS1 biogenesis of lysosomal organelles complex 3 subunit 1

Summary

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]

Known Variants875 total

rsidPosition (GRCh37)AllelesClassClinVar
rs658420310:100,173,428G/Adownstream gene variant—
rs658420410:100,173,580C/Gdownstream gene variant—
rs14602244110:100,175,995G/T—benign
rs88604658310:100,176,072C/T—uncertain significance
rs88604658410:100,176,086C/T—uncertain significance
rs383002510:100,176,104A/G—benign
rs383002410:100,176,106G/A—benign
rs55790692310:100,176,109A/T—uncertain significance
rs106143710:100,176,154C/T—benign
rs56344777210:100,176,236C/T—uncertain significance
rs184413793510:100,176,278G/A—uncertain significance
rs18622958210:100,176,316T/C—uncertain significance
rs19021135010:100,176,320C/A—uncertain significance
rs173910:100,176,339A/G—benign
rs97277877710:100,176,353C/T—uncertain significance
rs173710:100,176,366T/C—benign
rs88604658510:100,176,369A/C—uncertain significance
rs55806637010:100,176,378G/A—uncertain significance
rs11408244110:100,176,405C/T—benign
rs88604658610:100,176,553T/C—uncertain significance
rs88604658710:100,176,555C/A—uncertain significance
rs14970884710:100,176,585G/A—likely benign
rs55719486110:100,176,602A/G—uncertain significance
rs383002010:100,176,615G/C—benign
rs707548010:100,176,627A/G—benign
rs101233115310:100,176,630C/T—uncertain significance
rs102510735010:100,176,682C/A—uncertain significance
rs88604658810:100,176,686A/G—uncertain significance
rs77670032710:100,176,695G/A—uncertain significance
rs54036785010:100,176,732C/T—uncertain significance
rs145544644410:100,176,744G/A—uncertain significance
rs383001910:100,176,848T/C—benign
rs11479406310:100,176,861G/A—benign
rs70180110:100,176,869C/T—benign
rs118510754210:100,176,870G/C—uncertain significance
rs88604658910:100,176,918C/T—uncertain significance
rs88604659010:100,176,994C/T—uncertain significance
rs106112310:100,176,997A/G—benign
rs106111510:100,177,049G/A—benign
rs55259627510:100,177,069G/A—uncertain significance
rs11254405010:100,177,309G/A—likely benign
rs76236657110:100,177,324G/C—likely benign
rs37333451510:100,177,329G/A—likely benign
rs75916302010:100,177,337C/T—uncertain significance
rs11811676010:100,177,338G/A—uncertain significance
rs76393909710:100,177,343G/A—uncertain significance
rs184425931810:100,177,353G/A—uncertain significance
rs75138038210:100,177,355C/T—uncertain significance
rs36765608810:100,177,356G/A—uncertain significance
rs14712517510:100,177,358C/T—conflicting classifications of pathogenicity
rs383001410:100,177,359G/A—conflicting classifications of pathogenicity
rs253872164010:100,177,360G/A—likely benign
rs75621728610:100,177,363C/T—likely benign
rs78018345410:100,177,366C/G—uncertain significance
rs37218964210:100,177,367T/C—uncertain significance
rs159100280810:100,177,368G/A—pathogenic
rs55459385310:100,177,371C/G—uncertain significance
rs57626050210:100,177,372G/A—likely benign
rs77361110710:100,177,387C/T—conflicting classifications of pathogenicity
rs253872223410:100,177,390G/A—likely benign
rs253872230710:100,177,393A/C—likely benign
rs75907314710:100,177,394G/C—uncertain significance
rs132855207610:100,177,396G/T—likely benign
rs184426835710:100,177,407A/G—uncertain significance
rs213607848010:100,177,410G/A—likely benign
rs117782187410:100,177,414C/A—likely benign
rs213607857010:100,177,415A/G—likely pathogenic
rs88865391710:100,177,420C/T—likely benign
rs28186509010:100,177,421A/Gmissense variantpathogenic
rs100580235710:100,177,423C/G—likely benign
rs253872297910:100,177,424A/G—uncertain significance
rs12190838510:100,177,428C/Tmissense variantuncertain significance
rs13853949610:100,177,429G/A—likely benign
rs184427357710:100,177,437T/C—uncertain significance
rs253872336710:100,177,444C/T—likely benign
rs75134930310:100,177,447G/A—likely benign
rs159100327710:100,177,450T/C—likely benign
rs14400038410:100,177,451G/A—uncertain significance
rs14332312810:100,177,454C/T—conflicting classifications of pathogenicity
rs78009350410:100,177,455G/A—uncertain significance
rs184427811710:100,177,456G/T—uncertain significance
rs124096439210:100,177,465G/A—likely benign
rs119250338110:100,177,468G/A—likely benign
rs213607918210:100,177,471G/T—likely benign
rs77197424510:100,177,472C/T—uncertain significance
rs37532242210:100,177,473G/A—uncertain significance
rs253872403610:100,177,474C/G—likely benign
rs77235078710:100,177,477G/A—likely benign
rs253872417710:100,177,479G/A—uncertain significance
rs143728500010:100,177,487G/A—likely benign
rs253872442110:100,177,491G/T—likely benign
rs184428799610:100,177,497G/C—likely benign
rs102972237110:100,177,501G/A—likely benign
rs253873210110:100,177,913G/A—likely benign
rs253873222310:100,177,917C/A—likely benign
rs75389057710:100,177,918C/G—likely benign
rs75503218510:100,177,921C/T—likely benign
rs123663346810:100,177,922G/A—likely benign
rs75714245610:100,177,923C/T—likely benign
rs75286337210:100,177,925G/A—likely benign

Showing 100 of 875 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.