MIPEP

mitochondrial intermediate peptidase

Summary

The product of this gene performs the final step in processing a specific class of nuclear-encoded proteins targeted to the mitochondrial matrix or inner membrane. This protein is primarily involved in the maturation of oxidative phosphorylation (OXPHOS)-related proteins. This gene may contribute to the functional effects of frataxin deficiency and the clinical manifestations of Friedreich ataxia. [provided by RefSeq, Jul 2008]

Known Variants195 total

rsidPosition (GRCh37)AllelesClassClinVar
rs74553569913:24,304,492C/T—uncertain significance
rs37441264213:24,304,514G/C—uncertain significance
rs56771393513:24,304,537C/T—conflicting classifications of pathogenicity
rs159312018713:24,304,541G/A—likely benign
rs15030812313:24,304,584C/T—uncertain significance
rs1733660213:24,326,052G/A——
rs477048913:24,326,754A/Gregulatory region variant—
rs3435477013:24,327,618A/Cregulatory region variant—
rs74676895813:24,330,737C/T—uncertain significance
rs7915154113:24,330,743C/T—likely benign
rs14878051213:24,330,744G/A—uncertain significance
rs7315852813:24,330,751A/G—likely benign
rs36999564813:24,330,753C/A—likely benign
rs1162003613:24,334,215T/G—benign
rs121251235013:24,334,227C/A—uncertain significance
rs77368817113:24,334,233A/T—pathogenic
rs254764487913:24,334,247T/A—uncertain significance
rs254764492013:24,334,275T/C—uncertain significance
rs14169320513:24,334,281C/T—likely benign
rs77997764213:24,334,282G/C—likely benign
rs76523427213:24,334,324C/T—likely benign
rs18331569713:24,334,325C/T—uncertain significance
rs75279465413:24,334,343C/T—uncertain significance
rs254764501013:24,334,351C/T—likely pathogenic
rs78091562113:24,380,087A/C—likely pathogenic
rs14683461713:24,380,104T/C—likely benign
rs13816104613:24,380,114T/C—uncertain significance
rs11463816313:24,380,133C/Tmissense variantbenign
rs76076034913:24,380,149G/A—likely benign
rs11530985813:24,380,163G/A—benign
rs195310295313:24,380,170C/T—likely benign
rs105751873913:24,380,192A/Cmissense variantpathogenic
rs78050493313:24,380,202A/G—uncertain significance
rs18687343313:24,383,982T/C—likely benign
rs55727529413:24,383,984C/A—conflicting classifications of pathogenicity
rs195315242813:24,383,990T/G—uncertain significance
rs19987942413:24,383,999A/G—uncertain significance
rs254766431213:24,384,008G/A—uncertain significance
rs20214761513:24,384,009C/T—uncertain significance
rs131198722113:24,384,017A/C—uncertain significance
rs76553869013:24,384,024T/C—uncertain significance
rs77996644213:24,384,028T/C—likely benign
rs75325285013:24,384,038C/T—uncertain significance
rs13968434913:24,384,047A/G—conflicting classifications of pathogenicity
rs11414789613:24,384,066T/C—benign
rs951086913:24,384,129C/T—benign
rs955101213:24,410,057A/Tintron variant—
rs798251613:24,410,278G/A—benign
rs75204225813:24,410,393A/G—uncertain significance
rs76633193213:24,410,403A/G—likely benign
rs57400995113:24,410,420G/T—likely benign
rs14471752213:24,410,460C/T—benign
rs37117691513:24,410,483T/G—likely benign
rs76238419813:24,410,487C/A—likely benign
rs75402311913:24,410,495C/G—likely benign
rs142888896513:24,410,498G/A—likely benign
rs77749715413:24,411,680T/C—likely benign
rs74576747213:24,411,697C/T—uncertain significance
rs77959802013:24,411,700G/Cmissense variantpathogenic
rs36952138013:24,411,708C/T—uncertain significance
rs147285907313:24,411,712T/G—uncertain significance
rs18816273613:24,411,715G/A—uncertain significance
rs14583299613:24,411,724T/C—uncertain significance
rs140221107713:24,411,732A/G—uncertain significance
rs733304013:24,411,772T/C—benign
rs74881562213:24,411,807C/T—likely benign
rs254767895013:24,411,842T/C—likely benign
rs254767900713:24,411,872T/C—likely benign
rs1285824813:24,411,876C/T—uncertain significance
rs53232048913:24,411,877G/A—uncertain significance
rs75606076913:24,411,880T/G—conflicting classifications of pathogenicity
rs19237805913:24,412,833T/Cintron variant—
rs15094110513:24,413,815A/G—benign
rs227434413:24,415,443T/C—benign
rs78166598213:24,415,467A/C—likely benign
rs7612995513:24,415,468G/A—benign
rs186928704113:24,415,475A/G—likely pathogenic
rs95836356713:24,415,485C/T—uncertain significance
rs4131504413:24,415,494T/C—conflicting classifications of pathogenicity
rs74566242513:24,415,521C/T—uncertain significance
rs13855913013:24,415,546T/C—likely benign
rs18645581613:24,415,598G/A—uncertain significance
rs75843653513:24,415,612G/A—likely benign
rs958076613:24,415,734G/A—benign
rs3566042713:24,428,320C/A——
rs931808613:24,432,467A/Gintron variant—
rs74910469213:24,432,979G/A—likely benign
rs14954516913:24,433,009G/A—uncertain significance
rs78090542713:24,433,015C/T—uncertain significance
rs187016315313:24,433,017C/A—uncertain significance
rs138409958513:24,433,020C/T—uncertain significance
rs14410655013:24,433,041G/A—uncertain significance
rs142134408613:24,433,048C/G—likely benign
rs1050733513:24,433,104T/C—benign
rs955308213:24,433,244A/G—benign
rs36853790913:24,436,440C/T—likely pathogenic
rs77732351213:24,436,447T/C—likely benign
rs76342841113:24,436,463A/T—uncertain significance
rs105751874113:24,436,467T/Cmissense variantpathogenic
rs77628638013:24,436,471C/T—likely benign

Showing 100 of 195 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.