AGK

acylglycerol kinase

Summary

The protein encoded by this gene is a mitochondrial membrane protein involved in lipid and glycerolipid metabolism. The encoded protein is a lipid kinase that catalyzes the formation of phosphatidic and lysophosphatidic acids. Defects in this gene have been associated with mitochondrial DNA depletion syndrome 10. [provided by RefSeq, Feb 2012]

Known Variants287 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs7795885	7:141,251,044	C/G	—	benign
rs148553992	7:141,251,087	G/A	—	uncertain significance
rs886062017	7:141,251,110	G/A	—	uncertain significance
rs552726046	7:141,251,149	G/A	—	conflicting classifications of pathogenicity
rs886062018	7:141,251,161	G/C	—	uncertain significance
rs560194759	7:141,251,174	G/C	—	uncertain significance
rs570988835	7:141,251,213	G/A	—	uncertain significance
rs1214692572	7:141,251,216	G/A	—	likely benign
rs13242345	7:141,251,265	C/G	—	benign
rs12669650	7:141,254,984	A/G	—	benign
rs371437227	7:141,255,250	T/C	—	conflicting classifications of pathogenicity
rs2485442139	7:141,255,258	C/G	—	likely benign
rs863223895	7:141,255,269	G/C	missense variant	pathogenic
rs148294392	7:141,255,283	A/G	—	likely benign
rs772374736	7:141,255,286	C/T	—	uncertain significance
rs773549163	7:141,255,287	G/A	—	likely benign
rs139967538	7:141,255,291	C/T	—	pathogenic
rs577821330	7:141,255,292	G/A	—	conflicting classifications of pathogenicity
rs35269563	7:141,255,295	A/G	—	conflicting classifications of pathogenicity
rs1057524817	7:141,255,299	C/A	—	uncertain significance
rs762737147	7:141,255,308	A/G	—	conflicting classifications of pathogenicity
rs367844999	7:141,255,321	C/T	—	conflicting classifications of pathogenicity
rs779484397	7:141,255,329	G/C	—	likely benign
rs1587053244	7:141,255,338	G/A	—	pathogenic
rs768714970	7:141,255,346	A/C	—	uncertain significance
rs1562956645	7:141,255,357	G/A	—	uncertain significance
rs150421355	7:141,255,372	C/T	—	benign
rs373899577	7:141,255,374	A/C	—	conflicting classifications of pathogenicity
rs1795191617	7:141,255,380	C/G	—	likely benign
rs147298470	7:141,255,609	G/A	—	benign
rs886041835	7:141,292,945	G/T	—	pathogenic
rs199611875	7:141,292,952	C/A	—	uncertain significance
rs775499077	7:141,292,968	G/C	—	uncertain significance
rs1554399572	7:141,292,987	T/C	—	pathogenic
rs183937860	7:141,293,186	C/T	—	likely benign
rs116276788	7:141,293,252	C/T	—	likely benign
rs190474147	7:141,294,698	G/A	—	likely benign
rs113134123	7:141,296,344	T/G	—	likely benign
rs1245059066	7:141,296,348	C/G	—	likely benign
rs899737243	7:141,296,351	T/C	—	likely benign
rs758001507	7:141,296,354	T/A	—	likely benign
rs763744712	7:141,296,358	T/C	—	likely benign
rs568689004	7:141,296,365	T/G	—	uncertain significance
rs1287612321	7:141,296,393	C/T	—	uncertain significance
rs780164129	7:141,296,394	A/G	—	likely benign
rs199778260	7:141,296,406	G/T	—	conflicting classifications of pathogenicity
rs749193904	7:141,296,410	A/G	—	uncertain significance
rs565745559	7:141,296,423	A/G	—	uncertain significance
rs776417280	7:141,296,432	C/T	—	uncertain significance
rs1796233762	7:141,296,437	A/G	—	uncertain significance
rs200123164	7:141,296,450	G/A	—	likely benign
rs762733264	7:141,296,454	G/A	—	likely benign
rs755254666	7:141,300,985	A/G	—	likely benign
rs374601217	7:141,300,992	C/T	—	likely benign
rs1410173365	7:141,301,002	C/G	—	uncertain significance
rs1376867262	7:141,301,006	A/G	—	uncertain significance
rs368567634	7:141,301,015	A/T	—	uncertain significance
rs770857471	7:141,301,020	A/G	—	likely benign
rs781011525	7:141,301,024	G/A	—	uncertain significance
rs745864268	7:141,301,026	A/G	—	likely benign
rs769444205	7:141,301,027	A/G	—	uncertain significance
rs762680550	7:141,301,040	C/G	—	uncertain significance
rs773960062	7:141,301,041	G/A	—	likely benign
rs1015498834	7:141,301,050	T/C	—	likely benign
rs1373905406	7:141,301,060	A/G	—	uncertain significance
rs2485537118	7:141,301,070	C/T	—	uncertain significance
rs766719681	7:141,301,072	A/G	—	uncertain significance
rs765471424	7:141,301,082	T/C	splice region variant	pathogenic
rs972525482	7:141,301,083	A/G	—	uncertain significance
rs138364626	7:141,301,098	A/G	—	likely benign
rs117068630	7:141,310,801	T/C	—	likely benign
rs114698745	7:141,310,889	G/A	—	likely benign
rs368433813	7:141,310,977	G/T	—	likely benign
rs1554401640	7:141,310,993	A/G	—	pathogenic
rs1554401641	7:141,311,003	T/G	—	pathogenic
rs148971840	7:141,311,024	C/T	—	likely benign
rs145805257	7:141,311,028	G/C	—	uncertain significance
rs2485379125	7:141,311,036	G/A	—	uncertain significance
rs957496582	7:141,311,040	A/C	—	uncertain significance
rs756048978	7:141,311,044	C/T	—	uncertain significance
rs780162786	7:141,311,045	G/A	—	likely benign
rs989006017	7:141,311,049	G/A	—	uncertain significance
rs180770509	7:141,311,052	A/G	—	uncertain significance
rs2485379466	7:141,311,085	G/T	—	pathogenic
rs771375243	7:141,311,087	G/A	—	likely pathogenic
rs777096695	7:141,311,088	G/T	—	pathogenic
rs115429477	7:141,313,887	C/A	—	benign
rs752545115	7:141,313,933	A/G	—	likely benign
rs2485387194	7:141,313,937	C/G	—	uncertain significance
rs2485387197	7:141,313,940	T/C	—	likely benign
rs1308697507	7:141,313,951	T/C	—	likely benign
rs568195338	7:141,313,956	G/A	—	uncertain significance
rs746709222	7:141,313,964	C/T	stop gained	pathogenic
rs770394329	7:141,313,965	G/A	—	uncertain significance
rs1587129356	7:141,313,966	A/T	—	likely benign
rs1199705359	7:141,313,967	C/T	—	pathogenic
rs780744663	7:141,313,968	G/A	—	uncertain significance
rs144706178	7:141,313,971	C/G	—	likely benign
rs2485387471	7:141,313,975	T/G	—	uncertain significance
rs763406407	7:141,313,997	T/C	—	likely benign

Showing 100 of 287 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.