PYROXD1

pyridine nucleotide-disulphide oxidoreductase domain 1

Summary

This gene encodes a nuclear-cytoplasmic pyridine nucleotide-disulphide reductase (PNDR). PNDRs are flavoproteins that catalyze the pyridine nucleotide-dependent reduction of thiol residues in other proteins. The encoded protein belongs to the class I pyridine nucleotide-disulphide oxidoreductase family but lacks the C-terminal dimerization domain found in other family members and instead has a C-terminal nitrile reductase domain. It localizes to the nucleus and to striated sarcomeric compartments. Naturally occurring mutations in this gene cause early-onset myopathy with internalized nuclei and myofibrillar disorganization. A pseudogene of this gene has been defined on chromosome 11. [provided by RefSeq, Apr 2017]

Known Variants310 total

rsidPosition (GRCh37)AllelesClassClinVar
rs797930512:21,588,844C/G——
rs1761993112:21,590,201G/C—likely benign
rs648722212:21,590,226A/G—benign
rs1229793612:21,590,245T/C—benign
rs648722312:21,590,397T/C—benign
rs1761998012:21,590,490G/A—benign
rs11347224412:21,590,547A/T—likely benign
rs205846312:21,590,557A/C—benign
rs11374430212:21,590,600C/T—likely benign
rs205846412:21,590,621T/C—benign
rs78158861612:21,590,676G/A—likely benign
rs74638150312:21,590,683C/A—uncertain significance
rs37023949312:21,590,686C/G—conflicting classifications of pathogenicity
rs213723224912:21,590,704G/T—uncertain significance
rs101285206412:21,590,716G/A—uncertain significance
rs78131819812:21,590,730C/T—likely benign
rs133590177012:21,590,732T/A—uncertain significance
rs14532622712:21,590,746C/A—likely benign
rs19968250712:21,590,754G/A—uncertain significance
rs254022020612:21,590,759G/T—likely benign
rs55125068912:21,590,767G/A—likely benign
rs211016512:21,590,788C/A—benign
rs11305830912:21,591,029G/C—likely benign
rs1762014212:21,593,007G/C—likely benign
rs729830012:21,593,037T/C—benign
rs130344153312:21,593,282T/C—likely benign
rs74920804112:21,593,283C/G—likely benign
rs159193414012:21,593,310T/C—likely benign
rs213723779012:21,593,312A/T—uncertain significance
rs254022536412:21,593,316T/C—likely benign
rs105573089312:21,593,318C/T—uncertain significance
rs76656574612:21,593,319A/G—likely benign
rs15108327212:21,593,321C/T—uncertain significance
rs125234799812:21,593,322G/A—likely benign
rs133703270912:21,593,324A/G—uncertain significance
rs213723787512:21,593,326G/A—uncertain significance
rs19961147212:21,593,330T/C—uncertain significance
rs77948055512:21,593,344G/C—uncertain significance
rs254022557412:21,593,365G/C—uncertain significance
rs20101558812:21,593,371A/G—uncertain significance
rs77859183412:21,593,376C/G—uncertain significance
rs54144329612:21,593,391C/T—likely benign
rs476270212:21,593,404G/C—benign
rs7324650912:21,593,525A/G—benign
rs648722412:21,594,329G/Tintron variant—
rs18187474212:21,595,396C/Tintron variant—
rs196333012:21,598,195G/A—benign
rs196381712:21,598,264C/T—benign
rs213724745612:21,598,265T/C—likely benign
rs213724746212:21,598,266C/A—likely benign
rs54327384012:21,598,271A/G—benign
rs37542587212:21,598,275A/G—likely benign
rs254023403412:21,598,278C/A—uncertain significance
rs77765590812:21,598,293T/C—likely benign
rs375922812:21,598,304C/T—likely benign
rs77687466612:21,598,305G/C—uncertain significance
rs136155324312:21,598,308G/A—uncertain significance
rs254023416212:21,598,314G/T—pathogenic
rs36920162312:21,598,327C/T—uncertain significance
rs76452262912:21,598,335G/A—uncertain significance
rs14979590712:21,598,341C/T—uncertain significance
rs75458053912:21,598,351A/G—uncertain significance
rs20008207212:21,598,355T/C—likely benign
rs213724772912:21,598,358G/A—likely benign
rs75269637412:21,598,362A/G—uncertain significance
rs18359288212:21,598,373C/T—likely benign
rs194236904712:21,598,390G/A—uncertain significance
rs74675274612:21,598,394A/C—uncertain significance
rs36908378612:21,598,401G/Asplice region variantpathogenic
rs254023447612:21,598,412G/A—likely benign
rs145842702612:21,598,417C/A—likely benign
rs1229610912:21,598,474C/G—benign
rs7406494512:21,598,492C/G—likely benign
rs1230945412:21,598,526A/G—benign
rs713539012:21,598,701T/C—benign
rs6192627212:21,602,237C/T—likely benign
rs14761941012:21,602,437G/A—likely benign
rs254024310512:21,602,477A/G—likely benign
rs213725656912:21,602,486T/G—uncertain significance
rs134783497712:21,602,490T/G—uncertain significance
rs254024323512:21,602,520T/C—likely benign
rs14973978612:21,602,526C/A—uncertain significance
rs75624939312:21,602,527G/A—uncertain significance
rs37721263512:21,602,529A/G—likely benign
rs74937193912:21,602,531A/G—uncertain significance
rs213725680512:21,602,546T/C—uncertain significance
rs194245496912:21,602,554G/A—uncertain significance
rs14573321012:21,602,559T/C—likely benign
rs77338603312:21,602,560A/G—uncertain significance
rs53154598012:21,602,575T/C—uncertain significance
rs14046010812:21,602,576G/A—conflicting classifications of pathogenicity
rs76369574212:21,602,578G/A—uncertain significance
rs254024349012:21,602,583A/G—likely benign
rs14557902112:21,602,598A/T—uncertain significance
rs92151864612:21,602,601A/G—likely benign
rs75591119812:21,602,602A/G—uncertain significance
rs132234319512:21,602,605C/T—uncertain significance
rs105751875412:21,602,626G/A—pathogenic
rs77890415912:21,602,639G/T—likely benign
rs75455875912:21,602,642G/C—likely benign

Showing 100 of 310 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.