BLOC1S3

biogenesis of lysosomal organelles complex 1 subunit 3

Summary

This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism. [provided by RefSeq, Jul 2008]

Known Variants148 total

rsidPosition (GRCh37)AllelesClassClinVar
rs20076768619:45,682,548C/G—benign
rs36864153719:45,682,554C/T—likely benign
rs251383678719:45,682,559C/T—uncertain significance
rs74663481819:45,682,560G/A—likely benign
rs76832258519:45,682,567G/A—likely benign
rs14560948919:45,682,571G/A—conflicting classifications of pathogenicity
rs142080165919:45,682,585C/T—likely benign
rs251383690719:45,682,590G/A—likely benign
rs53234731319:45,682,596G/A—likely benign
rs130858034219:45,682,602G/A—likely benign
rs76781977919:45,682,606G/A—uncertain significance
rs75625258719:45,682,610C/T—uncertain significance
rs119028621919:45,682,617G/A—likely benign
rs251383702519:45,682,620G/A—likely benign
rs75830036419:45,682,624G/A—uncertain significance
rs251383704819:45,682,626G/A—likely benign
rs37001894319:45,682,640G/C—conflicting classifications of pathogenicity
rs78081635719:45,682,641C/A—likely benign
rs74785520819:45,682,643C/G—uncertain significance
rs87925221719:45,682,645G/T—uncertain significance
rs14891021019:45,682,646C/T—conflicting classifications of pathogenicity
rs37384713319:45,682,647G/T—likely benign
rs128042615319:45,682,649C/A—uncertain significance
rs251383714519:45,682,650C/T—likely benign
rs75997808119:45,682,652C/T—uncertain significance
rs251383715719:45,682,653G/C—likely benign
rs54756804519:45,682,654T/G—uncertain significance
rs56741038819:45,682,655C/A—uncertain significance
rs251383719319:45,682,659G/A—likely benign
rs52981728319:45,682,669C/T—likely benign
rs251383723519:45,682,674C/T—likely benign
rs131341188819:45,682,677G/A—likely benign
rs77982200919:45,682,678G/T—uncertain significance
rs212288047619:45,682,681C/T—uncertain significance
rs131707776019:45,682,687G/A—uncertain significance
rs75157908619:45,682,689C/A—likely benign
rs18228659819:45,682,698C/A—likely benign
rs56968469919:45,682,702C/T—uncertain significance
rs105583365419:45,682,714C/T—likely benign
rs251383740119:45,682,728G/A—likely benign
rs122287508419:45,682,731A/G—likely benign
rs91592856919:45,682,732G/A—uncertain significance
rs74872288419:45,682,734C/T—likely benign
rs77054447719:45,682,735G/A—uncertain significance
rs147890265919:45,682,744G/T—uncertain significance
rs77470999419:45,682,749G/A—likely benign
rs53861282519:45,682,752G/A—likely benign
rs55901381619:45,682,755G/C—likely benign
rs77250196719:45,682,758G/T—likely benign
rs77602912519:45,682,759C/T—uncertain significance
rs159974586519:45,682,767G/A—likely benign
rs143502317919:45,682,779C/T—likely benign
rs196947726519:45,682,781C/A—uncertain significance
rs251383758519:45,682,782G/A—likely benign
rs196947733119:45,682,785G/A—likely benign
rs88605448919:45,682,788G/A—likely benign
rs148758110919:45,682,791C/T—likely benign
rs196947761019:45,682,792C/T—likely benign
rs251383763419:45,682,793T/A—uncertain significance
rs121656084719:45,682,794G/T—likely benign
rs251383768819:45,682,809G/A—likely benign
rs129875252919:45,682,812G/A—likely benign
rs136215368919:45,682,813C/T—uncertain significance
rs251383773319:45,682,821G/A—likely benign
rs75850619:45,682,824A/G—benign
rs101318710819:45,682,829A/C—uncertain significance
rs102850518019:45,682,833C/G—likely benign
rs104500461219:45,682,839C/T—likely benign
rs128737401919:45,682,842G/A—likely benign
rs100852829119:45,682,845G/A—likely benign
rs90737875819:45,682,849G/A—uncertain significance
rs251383786719:45,682,854G/T—likely benign
rs119908343419:45,682,860C/A—likely benign
rs53494498119:45,682,862C/T—uncertain significance
rs144318828219:45,682,864C/T—uncertain significance
rs88605449019:45,682,865C/G—uncertain significance
rs251383795919:45,682,869G/A—likely benign
rs196948034619:45,682,871G/C—uncertain significance
rs115910629419:45,682,874C/T—uncertain significance
rs117822393619:45,682,875G/T—likely benign
rs7579224619:45,682,876C/G—likely benign
rs143284764719:45,682,878C/T—likely benign
rs117175567919:45,682,879C/G—uncertain significance
rs100924004919:45,682,886T/G—uncertain significance
rs102193356419:45,682,889G/T—uncertain significance
rs54664533319:45,682,893G/A—benign
rs251383807219:45,682,907C/T—uncertain significance
rs130517652319:45,682,908G/A—likely benign
rs251383810419:45,682,917C/T—likely benign
rs212288194219:45,682,919A/G—uncertain significance
rs57126973519:45,682,920C/T—likely benign
rs251383817019:45,682,932C/A—likely benign
rs37544198719:45,682,941C/A—uncertain significance
rs104572586419:45,682,946T/C—uncertain significance
rs91045226419:45,682,949A/G—uncertain significance
rs196948317319:45,682,950C/T—likely benign
rs143133978619:45,682,955G/C—uncertain significance
rs77728916519:45,682,957G/C—uncertain significance
rs116835455719:45,682,965C/T—likely benign
rs74903047219:45,682,969G/T—conflicting classifications of pathogenicity

Showing 100 of 148 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.