DDHD2

DDHD domain containing 2

Summary

This gene encodes a phospholipase enzyme containing sterile-alpha-motif (SAM), WWE, and DDHD domains. This protein participates in membrane trafficking between the endoplastic reticulum and the Golgi body. Mutations in this gene can cause autosomal recessive spastic paraplegia 54. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

Known Variants259 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1823415758:38,090,533A/G—likely benign
rs14575931688:38,090,542G/C—uncertain significance
rs18044161168:38,090,564C/G—uncertain significance
rs18044166988:38,090,570C/T—uncertain significance
rs24867483248:38,090,607A/T—uncertain significance
rs13583329598:38,090,617C/G—uncertain significance
rs2008835378:38,090,651T/G—uncertain significance
rs24867493578:38,090,708C/T—pathogenic
rs21307336898:38,090,750C/T—likely benign
rs24867496978:38,090,752T/G—likely benign
rs1120157688:38,090,766A/G—likely benign
rs7790824118:38,091,893C/T—likely benign
rs18045355578:38,091,901A/G—uncertain significance
rs7462771938:38,091,903C/T—likely benign
rs1416442828:38,091,917G/T—conflicting classifications of pathogenicity
rs1503611068:38,091,918G/A—likely benign
rs18045378998:38,091,932G/A—uncertain significance
rs12060390828:38,091,958T/C—likely benign
rs13464962908:38,091,959G/A—uncertain significance
rs5447284298:38,091,968T/C—conflicting classifications of pathogenicity
rs10032630828:38,091,970G/T—uncertain significance
rs2022164068:38,091,971G/T—uncertain significance
rs3722201518:38,091,983C/T—uncertain significance
rs7673392998:38,091,987A/C—uncertain significance
rs1444360688:38,091,995T/C—uncertain significance
rs7657956098:38,092,003T/G—uncertain significance
rs7509413468:38,092,012A/G—likely benign
rs7552677718:38,092,025C/T—pathogenic
rs7810891618:38,092,026G/T—uncertain significance
rs7482801698:38,092,029G/T—uncertain significance
rs7743093818:38,092,033G/A—likely benign
rs1485877208:38,092,051C/G—uncertain significance
rs1449934528:38,092,059A/G—uncertain significance
rs1917874708:38,092,061A/G—uncertain significance
rs2016403438:38,092,066T/C—likely benign
rs7509398858:38,092,070C/G—uncertain significance
rs13345517178:38,092,072C/T—uncertain significance
rs7483987838:38,092,077C/T—uncertain significance
rs7667948138:38,092,078G/C—uncertain significance
rs18045530948:38,092,081G/A—likely benign
rs2011218928:38,092,084C/G—conflicting classifications of pathogenicity
rs7721991588:38,092,091C/T—likely pathogenic
rs18045554288:38,092,106T/C—uncertain significance
rs5628274178:38,092,108C/T—uncertain significance
rs18048986758:38,095,045T/G—likely benign
rs3756166318:38,095,048C/G—likely benign
rs9397990618:38,095,064C/A—pathogenic
rs15545121528:38,095,072C/T—uncertain significance
rs10367711068:38,095,097G/A—likely benign
rs1437824538:38,095,099A/G—uncertain significance
rs10139394508:38,095,111C/G—uncertain significance
rs7778587088:38,095,115C/A—uncertain significance
rs13353928868:38,095,143A/G—uncertain significance
rs1129830798:38,095,317C/T—likely benign
rs3736423628:38,095,588C/A—likely benign
rs3757045648:38,095,598C/T—likely benign
rs13179902328:38,095,600G/T—likely benign
rs7548898978:38,095,613G/A—uncertain significance
rs14243008038:38,095,622C/T—likely pathogenic
rs18049507568:38,095,645T/C—likely benign
rs23068998:38,095,662C/T—benign
rs1499944138:38,095,663G/A—likely benign
rs7768306368:38,095,671G/T—uncertain significance
rs3772931948:38,095,673C/T—conflicting classifications of pathogenicity
rs7558520588:38,095,713T/C—uncertain significance
rs21307728298:38,095,717C/T—likely benign
rs7777661038:38,095,718A/G—uncertain significance
rs1451553788:38,095,723T/C—likely benign
rs1854030498:38,095,739C/T—likely benign
rs7689975998:38,095,740G/A—likely benign
rs1159961608:38,095,987T/A—likely benign
rs1407174268:38,097,531G/A—likely benign
rs1114259748:38,097,736A/T—likely benign
rs3767716828:38,097,798C/A—uncertain significance
rs9709003918:38,097,808T/C—uncertain significance
rs24868308898:38,097,832A/G—uncertain significance
rs1809362808:38,097,837A/G—uncertain significance
rs7641498178:38,097,858C/T—uncertain significance
rs12498411308:38,097,864C/T—pathogenic
rs7616709118:38,097,865G/A—uncertain significance
rs5600504758:38,097,869C/T—conflicting classifications of pathogenicity
rs7500329718:38,097,877A/C—uncertain significance
rs24868316658:38,097,887G/A—uncertain significance
rs13800053478:38,099,779C/T—conflicting classifications of pathogenicity
rs7674979938:38,099,780G/A—conflicting classifications of pathogenicity
rs7723173858:38,099,811T/C—likely benign
rs7767066968:38,099,850A/G—likely benign
rs18053230008:38,099,870G/A—pathogenic
rs18053235448:38,099,875A/G—uncertain significance
rs21307952098:38,099,880T/G—likely benign
rs563653388:38,100,688G/Aintron variant—
rs70067578:38,103,239T/A—benign
rs7665743148:38,103,240A/C—likely benign
rs3683667798:38,103,244T/C—likely benign
rs7646388878:38,103,267C/T—pathogenic
rs3981228268:38,103,270C/Tstop gainedpathogenic
rs1489044198:38,103,275A/C—likely benign
rs21308121008:38,103,279C/T—likely benign
rs7802441598:38,103,287C/T—likely benign
rs5615615458:38,103,295G/A—uncertain significance

Showing 100 of 259 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.