MVK

mevalonate kinase

Summary

This gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis. Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

Known Variants544 total

rsidPosition (GRCh37)AllelesClassClinVar
rs86932065512:110,011,284A/Gmissense variantpathogenic
rs6648601412:110,011,465G/A—benign
rs88604892912:110,011,638G/C—uncertain significance
rs88604893012:110,011,660G/A—uncertain significance
rs53409008512:110,011,664C/T—likely benign
rs56727849912:110,011,678G/A—uncertain significance
rs19233517712:110,011,689G/A—likely benign
rs75822954512:110,011,694C/T—likely benign
rs213621499412:110,011,739G/A—benign
rs375938712:110,012,467G/Tupstream gene variantbenign
rs6661626412:110,012,510C/G—benign
rs18623284712:110,012,597T/C—likely benign
rs75644864712:110,012,606C/T—likely benign
rs124149289012:110,012,628A/C—pathogenic
rs101018655912:110,012,636A/G—likely benign
rs14176565312:110,012,641T/C—uncertain significance
rs74934528812:110,012,642C/T—likely benign
rs10489533412:110,012,643——pathogenic
rs254861671712:110,012,644T/A—uncertain significance
rs147447023012:110,012,645A/G—likely benign
rs116600757912:110,012,646C/T—likely benign
rs10489532812:110,012,649G/C—not provided
rs254861675812:110,012,651G/A—likely benign
rs142088003312:110,012,654T/C—likely benign
rs188485990812:110,012,656C/T—uncertain significance
rs87666100112:110,012,659C/T—uncertain significance
rs77928941612:110,012,660G/A—conflicting classifications of pathogenicity
rs188486086812:110,012,663G/T—likely benign
rs10489530712:110,012,664A/T—pathogenic
rs254861679312:110,012,669C/T—likely benign
rs77255205912:110,012,679G/A—conflicting classifications of pathogenicity
rs1154429912:110,012,685C/A—pathogenic
rs10489529512:110,012,686A/Cmissense variantpathogenic
rs10489533512:110,012,687T/A—pathogenic
rs213621675012:110,012,689C/T—likely pathogenic
rs74734226912:110,012,690C/T—likely benign
rs121725911812:110,012,691G/C—uncertain significance
rs213621677612:110,012,694G/A—uncertain significance
rs14406931212:110,012,698A/G—uncertain significance
rs10489533012:110,012,702C/T—not provided
rs76474832712:110,012,705G/A—uncertain significance
rs188486480912:110,012,706G/A—likely pathogenic
rs76639127812:110,012,713G/A—conflicting classifications of pathogenicity
rs75145274012:110,012,715C/A—likely benign
rs75476614512:110,012,716G/A—likely benign
rs188486648812:110,012,723C/T—likely benign
rs188486665012:110,012,724C/G—likely benign
rs254861698612:110,012,725T/C—likely benign
rs6194051212:110,012,766A/G—benign
rs188487209212:110,012,810A/G—benign
rs57635650212:110,012,846G/A—benign
rs10489534312:110,012,882G/A—benign
rs7936269612:110,012,970A/G—likely benign
rs1183451712:110,013,627G/A—likely benign
rs660673412:110,013,639T/G—benign
rs10489534412:110,013,741G/A—not provided
rs75894475112:110,013,787G/A—likely benign
rs254861857812:110,013,792T/G—likely benign
rs133776859012:110,013,799A/G—likely benign
rs188493288312:110,013,801A/G—likely pathogenic
rs77013648212:110,013,804T/G—uncertain significance
rs254861862412:110,013,808A/G—likely benign
rs156614143012:110,013,810T/C—uncertain significance
rs76900020312:110,013,813C/T—uncertain significance
rs254861865012:110,013,820C/T—likely benign
rs10489531312:110,013,828T/C—conflicting classifications of pathogenicity
rs148095250312:110,013,829G/C—uncertain significance
rs10489529612:110,013,840T/C—not provided
rs105595243312:110,013,842C/T—uncertain significance
rs37309500912:110,013,843G/A—uncertain significance
rs39751457112:110,013,846T/Cmissense variantpathogenic
rs254861869612:110,013,849A/C—uncertain significance
rs20032049612:110,013,850A/G—conflicting classifications of pathogenicity
rs138931682512:110,013,853C/A—likely benign
rs91671212612:110,013,856C/T—likely benign
rs124993693112:110,013,859C/T—likely benign
rs213621874512:110,013,868A/G—likely benign
rs76253383312:110,013,871G/A—likely benign
rs89277919712:110,013,875C/T—conflicting classifications of pathogenicity
rs120762214312:110,013,877C/T—likely benign
rs795761912:110,013,879A/G—uncertain significance
rs213621880912:110,013,886C/T—likely benign
rs14909500312:110,013,890A/G—uncertain significance
rs254861880912:110,013,892T/C—likely benign
rs254861882912:110,013,896A/G—uncertain significance
rs20216743512:110,013,902C/T—conflicting classifications of pathogenicity
rs124877964612:110,013,903G/A—uncertain significance
rs10489530612:110,013,909G/A—pathogenic
rs213621886212:110,013,910G/C—uncertain significance
rs188493936512:110,013,911G/A—uncertain significance
rs116587532812:110,013,912A/T—uncertain significance
rs146142482812:110,013,916G/A—likely benign
rs90677598412:110,013,918C/T—uncertain significance
rs75756509812:110,013,921G/A—uncertain significance
rs76534483612:110,013,927A/G—uncertain significance
rs254861890012:110,013,931A/G—likely benign
rs19981101112:110,013,934G/T—conflicting classifications of pathogenicity
rs138576867912:110,013,939C/T—uncertain significance
rs75843289412:110,013,940A/G—likely benign
rs14573229012:110,013,954A/G—conflicting classifications of pathogenicity

Showing 100 of 544 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.