HPS3

HPS3 biogenesis of lysosomal organelles complex 2 subunit 1

Summary

This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. [provided by RefSeq, Apr 2015]

Known Variants903 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1141497923:148,847,205C/T—likely benign
rs745525763:148,847,223G/A—benign
rs1378728763:148,847,308G/C—benign
rs8860580743:148,847,403C/T—uncertain significance
rs130894103:148,847,441T/C—likely benign
rs7506592803:148,847,461C/T—uncertain significance
rs3752270183:148,847,468C/A—uncertain significance
rs10484331983:148,847,511A/C—uncertain significance
rs24730446133:148,847,517C/T—pathogenic
rs13433908513:148,847,520C/T—conflicting classifications of pathogenicity
rs5772053153:148,847,522G/C—likely benign
rs7531853163:148,847,525C/G—pathogenic
rs21081117593:148,847,528C/T—likely benign
rs12011387263:148,847,529C/T—likely benign
rs14269363703:148,847,531G/A—likely benign
rs17216286353:148,847,534C/T—likely benign
rs7780743123:148,847,537G/C—likely benign
rs17216291893:148,847,540C/T—likely benign
rs7579325783:148,847,543G/C—likely benign
rs14660730043:148,847,545C/A—pathogenic
rs5458846223:148,847,546G/A—likely benign
rs1418833463:148,847,561C/T—conflicting classifications of pathogenicity
rs12340376963:148,847,564C/T—likely benign
rs24730448843:148,847,568C/T—likely benign
rs14273037483:148,847,573G/A—likely benign
rs7730890483:148,847,576G/A—likely benign
rs21081119493:148,847,579C/T—likely benign
rs13144249273:148,847,580C/T—uncertain significance
rs21081119623:148,847,585C/T—likely benign
rs21081119973:148,847,594G/A—likely benign
rs7746252493:148,847,597G/A—likely benign
rs7595880093:148,847,599G/A—uncertain significance
rs14336826503:148,847,603C/T—likely benign
rs14115251283:148,847,606G/C—likely benign
rs7540866583:148,847,618G/A—likely benign
rs13933074543:148,847,621G/T—likely benign
rs14383096903:148,847,624C/T—likely benign
rs24730452363:148,847,630G/A—likely benign
rs24730452413:148,847,631G/A—uncertain significance
rs9340942123:148,847,633G/A—likely benign
rs15537500973:148,847,634G/T—likely pathogenic
rs17216408743:148,847,638C/A—uncertain significance
rs7796313263:148,847,642C/A—uncertain significance
rs7545757153:148,847,645G/C—likely benign
rs21081122563:148,847,651C/G—likely benign
rs24730453653:148,847,655C/T—likely pathogenic
rs24730453863:148,847,658G/T—pathogenic
rs7776245503:148,847,660G/T—uncertain significance
rs1996639303:148,847,668A/G—benign
rs7744804833:148,847,669G/T—uncertain significance
rs7597174093:148,847,671C/T—uncertain significance
rs24730454903:148,847,672G/T—likely benign
rs17216449923:148,847,675G/A—likely benign
rs21081123813:148,847,681C/T—likely benign
rs12998729393:148,847,684C/T—likely benign
rs13492105373:148,847,687C/A—likely benign
rs21081124023:148,847,690G/T—likely benign
rs21081124123:148,847,692T/C—uncertain significance
rs15599024223:148,847,697C/A—likely benign
rs21081124313:148,847,699G/A—likely benign
rs7621325923:148,847,700G/T—uncertain significance
rs5298389333:148,847,706C/T—uncertain significance
rs5465312553:148,847,709C/T—benign
rs7546270743:148,847,714C/T—likely benign
rs24730457873:148,847,717C/A—likely pathogenic
rs15766537343:148,847,720C/T—likely benign
rs17216502183:148,847,726T/A—uncertain significance
rs12868926263:148,847,729T/G—likely pathogenic
rs17216517773:148,847,734A/C—likely benign
rs24730458723:148,847,735A/G—likely benign
rs21081125493:148,847,736T/C—likely benign
rs10211019773:148,847,737C/T—likely benign
rs15599024823:148,847,739A/G—likely benign
rs9406063323:148,847,742G/C—likely benign
rs10370346393:148,847,745C/T—likely benign
rs5666636423:148,847,746C/G—likely benign
rs15766538143:148,847,747A/G—likely benign
rs1151657003:148,847,859C/T—benign
rs1123760823:148,847,934G/T—benign
rs76433063:148,847,967C/A—benign
rs1145115873:148,857,690C/T—benign
rs177870993:148,857,714A/C—benign
rs3704468273:148,857,774T/C—likely benign
rs14401457243:148,857,782C/T—likely benign
rs7770440023:148,857,786C/T—likely benign
rs17223352533:148,857,789A/G—likely pathogenic
rs7655401293:148,857,797A/G—uncertain significance
rs7592642153:148,857,799T/C—likely benign
rs7557294933:148,857,808A/C—uncertain significance
rs1506457153:148,857,818A/G—uncertain significance
rs12181039803:148,857,819A/G—likely benign
rs24730677343:148,857,825A/G—likely benign
rs7785777443:148,857,828T/G—likely benign
rs17223382913:148,857,831A/G—likely benign
rs7803050203:148,857,837A/G—likely benign
rs2020873443:148,857,838C/T—uncertain significance
rs7686493173:148,857,839G/A—uncertain significance
rs24730678963:148,857,840T/C—likely benign
rs17223399203:148,857,843T/C—likely benign
rs7670787653:148,857,861T/C—likely benign

Showing 100 of 903 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.