DTNBP1

dystrobrevin binding protein 1

Summary

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and binds to alpha- and beta-dystrobrevins, which are components of the dystrophin-associated protein complex (DPC). Mutations in this gene are associated with Hermansky-Pudlak syndrome type 7. This gene may also be associated with schizophrenia. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

Known Variants244 total

rsidPosition (GRCh37)AllelesClassClinVar
rs623961406:15,522,919T/C—likely benign
rs10476316:15,523,101C/T—benign
rs1384066676:15,523,152C/T—likely benign
rs17720030846:15,523,213T/C—uncertain significance
rs3752828796:15,523,214C/T—uncertain significance
rs9729615236:15,523,218G/A—likely benign
rs5345129456:15,523,228C/T—uncertain significance
rs3716066306:15,523,233C/T—likely benign
rs3766706116:15,523,234G/A—uncertain significance
rs25333159726:15,523,238T/A—uncertain significance
rs3675431016:15,523,242C/G—uncertain significance
rs3675431026:15,523,243T/C—uncertain significance
rs14140742606:15,523,253T/C—uncertain significance
rs7472231396:15,523,256G/A—uncertain significance
rs5548296786:15,523,271C/T—uncertain significance
rs7759439746:15,523,295C/T—uncertain significance
rs7812267546:15,523,296A/C—uncertain significance
rs3687595116:15,523,298C/T—uncertain significance
rs3718242726:15,523,299G/A—likely benign
rs7658859366:15,523,305A/G—likely benign
rs7535466936:15,523,310C/T—uncertain significance
rs7546937776:15,523,311G/A—likely benign
rs3675431036:15,523,312G/C—uncertain significance
rs2000267516:15,523,316A/G—uncertain significance
rs14557302196:15,523,320C/T—likely benign
rs13944474916:15,523,325C/T—uncertain significance
rs25333168296:15,523,326C/T—likely benign
rs5567199706:15,523,334T/C—uncertain significance
rs3740856866:15,523,339C/T—uncertain significance
rs1850092286:15,523,340G/A—uncertain significance
rs3756073476:15,523,341G/C—likely benign
rs12543416686:15,523,342G/A—uncertain significance
rs1407163786:15,523,347C/T—likely benign
rs792622986:15,523,348G/A—uncertain significance
rs7506874026:15,523,352C/T—uncertain significance
rs7582735696:15,523,353G/A—likely benign
rs2009287116:15,523,362G/A—likely benign
rs749079826:15,523,376G/A—likely benign
rs733695346:15,523,388T/C—benign
rs21277844346:15,523,390A/C—likely pathogenic
rs7762654646:15,523,413G/A—likely benign
rs11905029956:15,523,416G/A—likely benign
rs7649184986:15,523,418T/C—uncertain significance
rs7803430756:15,523,422C/A—uncertain significance
rs7627886726:15,523,431A/G—likely benign
rs12138713046:15,523,444T/G—uncertain significance
rs174704546:15,523,448A/G—likely benign
rs3728778456:15,523,462C/T—likely benign
rs3772540126:15,523,463G/A—likely benign
rs21277845826:15,523,467G/A—likely benign
rs10414605076:15,523,470A/G—likely benign
rs783302756:15,524,388G/T—benign
rs7421066:15,524,480A/G—benign
rs69306556:15,524,481T/C—benign
rs20569436:15,524,563C/T—likely benign
rs1176101766:15,524,599A/G—benign
rs168765696:15,524,661C/T—likely benign
rs168765716:15,524,679A/G—likely benign
rs1414411896:15,524,687C/A—uncertain significance
rs1508992956:15,524,694C/T—uncertain significance
rs168765736:15,524,698C/T—benign
rs1445243876:15,524,715G/A—uncertain significance
rs7771143476:15,524,726G/A—uncertain significance
rs1461133666:15,524,742G/C—conflicting classifications of pathogenicity
rs7759971436:15,524,763C/T—uncertain significance
rs3749473596:15,524,764G/A—likely benign
rs11818738426:15,524,767G/C—likely benign
rs7536185206:15,524,778T/C—conflicting classifications of pathogenicity
rs3684556036:15,524,791T/C—likely benign
rs1401311746:15,524,800C/A—benign
rs12419774966:15,524,803G/A—likely benign
rs7461815426:15,524,809G/A—likely benign
rs11908645436:15,524,819T/C—uncertain significance
rs8860612246:15,524,827C/T—likely benign
rs7759440906:15,524,828G/A—uncertain significance
rs1449689866:15,524,830T/C—uncertain significance
rs12560574356:15,524,832T/C—uncertain significance
rs7714659876:15,524,835C/G—uncertain significance
rs3728005136:15,524,859T/C—uncertain significance
rs25333316626:15,524,863C/T—likely benign
rs3763131386:15,524,865C/T—uncertain significance
rs781810716:15,524,866G/A—conflicting classifications of pathogenicity
rs12271319166:15,524,879G/T—uncertain significance
rs1420754196:15,524,880A/G—uncertain significance
rs7526605506:15,524,894A/G—conflicting classifications of pathogenicity
rs1878493856:15,524,895T/C—uncertain significance
rs14825330486:15,524,897G/C—uncertain significance
rs3693227236:15,524,904C/T—likely benign
rs2021989426:15,524,905G/A—conflicting classifications of pathogenicity
rs7573055286:15,524,908T/C—benign
rs3757383176:15,524,916C/A—likely benign
rs3697075916:15,524,918C/T—likely benign
rs3734280086:15,524,919G/A—likely benign
rs168765756:15,525,157T/C—benign
rs174706156:15,525,176T/C—likely benign
rs92969816:15,532,900C/Tintron variant—
rs1849394006:15,533,460C/G—likely benign
rs5342575826:15,533,464C/A—likely benign
rs617394106:15,533,469G/A—benign
rs3677022946:15,533,474G/A—pathogenic

Showing 100 of 244 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.