GPD1

glycerol-3-phosphate dehydrogenase 1

Summary

This gene encodes a member of the NAD-dependent glycerol-3-phosphate dehydrogenase family. The encoded protein plays a critical role in carbohydrate and lipid metabolism by catalyzing the reversible conversion of dihydroxyacetone phosphate (DHAP) and reduced nicotine adenine dinucleotide (NADH) to glycerol-3-phosphate (G3P) and NAD+. The encoded cytosolic protein and mitochondrial glycerol-3-phosphate dehydrogenase also form a glycerol phosphate shuttle that facilitates the transfer of reducing equivalents from the cytosol to mitochondria. Mutations in this gene are a cause of transient infantile hypertriglyceridemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]

Known Variants108 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14400992512:50,497,834A/G—uncertain significance
rs77628429112:50,497,867G/A—uncertain significance
rs92294782512:50,497,872C/T—likely benign
rs75251448112:50,497,891A/G—likely benign
rs83617812:50,498,139T/G—benign
rs7144131912:50,498,148C/A—likely benign
rs145122073612:50,498,347C/T—likely benign
rs54671796812:50,498,369C/T—likely benign
rs76755406512:50,498,375G/A—likely benign
rs53158095812:50,498,379G/A—uncertain significance
rs94832371512:50,498,398A/G—uncertain significance
rs37623646412:50,498,419G/A—uncertain significance
rs75654588712:50,498,420G/A—likely benign
rs253952828012:50,498,431G/A—pathogenic
rs74901218012:50,498,448A/G—conflicting classifications of pathogenicity
rs14298504312:50,498,449T/A—uncertain significance
rs15111310012:50,498,474C/A—likely benign
rs223220212:50,498,475A/G—likely benign
rs3442321012:50,498,520T/C—likely benign
rs213792032112:50,498,535G/A—pathogenic
rs20102048412:50,498,554G/A—benign
rs11642740612:50,499,064C/T—likely benign
rs36761117512:50,499,317G/C—likely benign
rs14791469812:50,499,347T/G—likely benign
rs253952983512:50,499,350T/C—likely benign
rs76008634812:50,499,363G/C—uncertain significance
rs75223962212:50,499,375C/A—likely benign
rs253952992712:50,499,386T/A—uncertain significance
rs132654703812:50,499,398A/G—uncertain significance
rs75602510712:50,499,406G/C—uncertain significance
rs76017635812:50,499,447C/T—likely benign
rs223220412:50,499,998A/G—likely benign
rs223220512:50,500,015G/A—likely benign
rs20032741812:50,500,070G/C—pathogenic
rs3542835312:50,500,071G/A—conflicting classifications of pathogenicity
rs13816178012:50,500,079C/T—likely benign
rs3478351312:50,500,080G/A—likely benign
rs11124104612:50,500,090A/G—conflicting classifications of pathogenicity
rs14826689512:50,500,104A/G—uncertain significance
rs144295480612:50,500,106C/T—likely benign
rs18452237612:50,500,108C/T—conflicting classifications of pathogenicity
rs19990208512:50,500,117T/C—uncertain significance
rs75017768512:50,500,124G/A—likely benign
rs74855704612:50,500,130C/T—likely benign
rs14623996812:50,500,141T/C—conflicting classifications of pathogenicity
rs13797806212:50,500,172C/T—likely benign
rs7312351412:50,500,381A/T—likely benign
rs56323149112:50,500,408C/G—likely benign
rs20197488912:50,500,570G/A—likely benign
rs20099113912:50,500,600C/T—uncertain significance
rs213792291112:50,500,632C/T—pathogenic
rs77114136812:50,500,647C/T—likely benign
rs145768049312:50,500,650A/T—uncertain significance
rs139118655312:50,500,655A/G—likely benign
rs223220712:50,500,678T/C—conflicting classifications of pathogenicity
rs76343180012:50,500,692G/T—uncertain significance
rs76422431712:50,500,693C/T—uncertain significance
rs195098283912:50,500,698A/G—uncertain significance
rs3525665512:50,500,700G/A—conflicting classifications of pathogenicity
rs223220812:50,501,249T/C—benign
rs93100556312:50,501,338C/T—likely benign
rs37615520812:50,501,362G/A—uncertain significance
rs137698110912:50,501,366G/T—uncertain significance
rs195099022812:50,501,377T/C—pathogenic
rs14101404412:50,501,397C/T—likely benign
rs129591701112:50,501,403C/G—uncertain significance
rs20160943612:50,501,411C/T—conflicting classifications of pathogenicity
rs20102763112:50,501,412G/A—likely benign
rs75112791912:50,501,413G/A—uncertain significance
rs19967345512:50,501,423G/Amissense variantpathogenic
rs14488617812:50,501,444T/C—conflicting classifications of pathogenicity
rs14793132812:50,501,452G/A—uncertain significance
rs77798092812:50,501,455A/C—uncertain significance
rs100678513612:50,501,481C/T—likely benign
rs119236465012:50,501,486C/T—conflicting classifications of pathogenicity
rs74895873112:50,501,528C/T—uncertain significance
rs159230292312:50,501,534A/G—uncertain significance
rs74642508012:50,501,536G/A—uncertain significance
rs76134276412:50,501,542C/T—conflicting classifications of pathogenicity
rs36957524312:50,501,543G/A—pathogenic
rs213792436312:50,501,545A/G—uncertain significance
rs14172236912:50,501,549G/A—uncertain significance
rs20124629012:50,501,566T/G—uncertain significance
rs77590518612:50,501,573G/A—uncertain significance
rs37621463212:50,501,592C/T—likely benign
rs20045393312:50,501,593G/A—benign
rs74779192312:50,501,804C/A—uncertain significance
rs121690835512:50,501,806G/A—uncertain significance
rs14859878112:50,501,810A/G—benign
rs77645105212:50,501,821G/A—likely benign
rs88909260312:50,501,855G/A—conflicting classifications of pathogenicity
rs14349215212:50,501,860C/T—benign
rs56908338212:50,501,861G/A—uncertain significance
rs128997692712:50,501,865C/G—uncertain significance
rs14095166812:50,501,871G/A—likely benign
rs75434358812:50,501,877T/G—uncertain significance
rs86644002812:50,501,907T/C—uncertain significance
rs159230337112:50,501,914G/A—likely pathogenic
rs77035597612:50,501,932C/G—likely benign
rs83617912:50,503,082A/G—benign

Showing 100 of 108 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.