MVD

mevalonate diphosphate decarboxylase

Summary

The enzyme mevalonate pyrophosphate decarboxylase catalyzes the conversion of mevalonate pyrophosphate into isopentenyl pyrophosphate in one of the early steps in cholesterol biosynthesis. It decarboxylates and dehydrates its substrate while hydrolyzing ATP. [provided by RefSeq, Jul 2008]

Known Variants63 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs774799205	16:88,718,949	G/C	—	uncertain significance
rs1200311854	16:88,719,000	G/T	—	uncertain significance
rs148833471	16:88,719,726	T/C	—	likely benign
rs201844867	16:88,719,745	G/A	—	uncertain significance
rs151006109	16:88,719,760	G/A	—	likely benign
rs145850660	16:88,719,770	G/C	—	uncertain significance
rs2142891225	16:88,719,775	G/C	—	uncertain significance
rs79325107	16:88,719,824	A/C	—	benign
rs750734627	16:88,721,095	C/A	—	uncertain significance
rs780212718	16:88,721,099	C/A	—	pathogenic
rs1907791092	16:88,721,101	T/C	—	likely benign
rs34657446	16:88,721,111	C/T	—	likely benign
rs374779531	16:88,721,112	G/A	—	uncertain significance
rs1488556161	16:88,721,154	G/A	—	uncertain significance
rs150857520	16:88,721,618	C/T	—	uncertain significance
rs755948940	16:88,721,629	T/C	missense variant	pathogenic
rs1907830338	16:88,721,630	T/G	—	uncertain significance
rs746373755	16:88,721,734	A/G	—	uncertain significance
rs761991070	16:88,721,758	A/G	missense variant	pathogenic
rs749607828	16:88,721,810	C/G	—	uncertain significance
rs139812589	16:88,721,816	C/T	—	conflicting classifications of pathogenicity
rs373594765	16:88,722,065	C/A	—	uncertain significance
rs769646021	16:88,722,066	G/A	—	uncertain significance
rs374443480	16:88,722,076	G/T	—	uncertain significance
rs574614800	16:88,722,092	G/C	—	likely benign
rs542107288	16:88,722,105	C/T	—	uncertain significance
rs201322709	16:88,722,147	G/A	—	likely benign
rs183432375	16:88,722,294	G/A	upstream gene variant	—
rs1448940967	16:88,722,524	G/A	—	uncertain significance
rs569320748	16:88,722,551	C/T	—	uncertain significance
rs148668035	16:88,722,566	G/A	—	uncertain significance
rs760881892	16:88,722,587	C/T	—	uncertain significance
rs57279356	16:88,722,588	G/A	—	likely benign
rs755027753	16:88,722,595	T/C	—	uncertain significance
rs752625315	16:88,722,602	T/A	—	uncertain significance
rs146629473	16:88,722,635	G/A	—	uncertain significance
rs141463390	16:88,722,656	G/A	—	benign
rs969969487	16:88,722,704	G/C	—	uncertain significance
rs370500274	16:88,723,861	G/A	—	uncertain significance
rs757884457	16:88,723,888	G/A	—	uncertain significance
rs2507583314	16:88,723,895	A/G	—	uncertain significance
rs147252211	16:88,723,913	C/T	—	uncertain significance
rs759727451	16:88,723,933	C/A	—	uncertain significance
rs1908008545	16:88,723,943	G/T	—	uncertain significance
rs1908009725	16:88,723,954	T/G	—	uncertain significance
rs376949804	16:88,723,957	C/T	—	uncertain significance
rs200508667	16:88,724,328	C/T	—	uncertain significance
rs2279258	16:88,724,347	T/G	—	benign
rs116232108	16:88,724,348	C/T	—	benign
rs756168102	16:88,724,355	C/A	—	uncertain significance
rs774779770	16:88,724,370	C/T	—	uncertain significance
rs773279830	16:88,724,409	C/G	—	uncertain significance
rs200435526	16:88,724,416	C/T	—	uncertain significance
rs1597381715	16:88,725,071	A/G	—	uncertain significance
rs141900581	16:88,725,094	G/C	—	uncertain significance
rs776801976	16:88,725,117	C/T	—	uncertain significance
rs200509037	16:88,725,120	G/T	—	uncertain significance
rs6416802	16:88,725,283	C/T	—	—
rs200035262	16:88,729,414	C/T	—	conflicting classifications of pathogenicity
rs201991933	16:88,729,428	T/G	—	uncertain significance
rs142431370	16:88,729,463	G/A	—	likely benign
rs200621321	16:88,729,472	G/T	—	uncertain significance
rs770646062	16:88,729,496	C/T	—	likely benign

Gene information from NCBI Gene. Variant classifications from ClinVar.