AGXT

alanine--glyoxylate aminotransferase

Summary

This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targetting, have been associated with type I primary hyperoxaluria. [provided by RefSeq, Jul 2008]

Known Variants647 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs34927888	2:241,807,962	A/G	—	likely benign
rs73106670	2:241,808,050	G/C	—	likely benign
rs73106672	2:241,808,237	G/A	—	likely benign
rs192950967	2:241,808,259	C/G	—	likely benign
rs116057889	2:241,808,260	G/A	—	likely benign
rs376396832	2:241,808,269	G/A	—	uncertain significance
rs775983584	2:241,808,277	C/T	—	likely benign
rs138584408	2:241,808,284	T/C	missense variant	pathogenic
rs180177213	2:241,808,285	G/T	missense variant	pathogenic
rs2528738822	2:241,808,291	T/A	—	likely benign
rs767860823	2:241,808,297	G/A	—	likely benign
rs1455078510	2:241,808,303	G/T	—	likely benign
rs796052057	2:241,808,304	G/C	missense variant	pathogenic
rs115014558	2:241,808,308	C/A	—	likely benign
rs180177188	2:241,808,309	C/A	—	likely benign
rs180177191	2:241,808,310	C/T	missense variant	pathogenic
rs375712696	2:241,808,313	C/G	—	uncertain significance
rs34116584	2:241,808,314	C/A	missense variant	uncertain significance
rs1318935887	2:241,808,315	C/A	—	likely benign
rs142969817	2:241,808,317	A/G	—	conflicting classifications of pathogenicity
rs2528738973	2:241,808,319	G/C	—	uncertain significance
rs530836808	2:241,808,321	C/T	—	likely benign
rs2058975287	2:241,808,322	C/T	—	conflicting classifications of pathogenicity
rs1259541782	2:241,808,324	G/A	—	likely benign
rs571553505	2:241,808,330	G/A	—	likely benign
rs2528739011	2:241,808,334	C/T	—	uncertain significance
rs1057288575	2:241,808,336	C/T	—	likely benign
rs2528739019	2:241,808,339	C/G	—	likely benign
rs2528739028	2:241,808,342	C/A	—	likely benign
rs2528739040	2:241,808,345	C/T	—	likely benign
rs34885252	2:241,808,347	A/G	—	benign
rs1575707182	2:241,808,349	C/T	—	pathogenic
rs754037121	2:241,808,352	C/A	—	uncertain significance
rs900156149	2:241,808,354	C/G	—	likely benign
rs180177262	2:241,808,356	T/G	missense variant	pathogenic
rs2528739090	2:241,808,357	G/T	—	likely benign
rs180177268	2:241,808,359	T/C	missense variant	pathogenic
rs2528739107	2:241,808,361	G/T	—	likely pathogenic
rs765405040	2:241,808,362	G/A	—	uncertain significance
rs1175994112	2:241,808,363	G/C	—	likely benign
rs376684240	2:241,808,364	C/T	—	uncertain significance
rs2106427335	2:241,808,372	T/C	—	likely benign
rs1181815243	2:241,808,381	G/C	—	likely benign
rs758388293	2:241,808,382	C/T	—	uncertain significance
rs2528739192	2:241,808,387	T/A	—	likely benign
rs180177157	2:241,808,388	C/T	missense variant	pathogenic
rs180177162	2:241,808,389	G/A	missense variant	pathogenic
rs1333685290	2:241,808,402	C/T	—	likely benign
rs121908523	2:241,808,403	G/A	missense variant	pathogenic
rs180177168	2:241,808,404	G/T	missense variant	pathogenic
rs769473982	2:241,808,405	G/A	—	likely benign
rs180177170	2:241,808,407	G/A	missense variant	pathogenic
rs1251984525	2:241,808,408	G/A	—	likely benign
rs768181954	2:241,808,410	T/A	—	likely benign
rs180177172	2:241,808,412	C/T	stop gained	pathogenic
rs200488482	2:241,808,420	C/T	—	likely benign
rs180177173	2:241,808,421	G/A	missense variant	pathogenic
rs1171762321	2:241,808,422	G/A	—	likely pathogenic
rs776929752	2:241,808,426	C/T	—	likely benign
rs74205173	2:241,808,427	A/C	—	likely benign
rs765607242	2:241,808,438	T/C	—	likely benign
rs2528739362	2:241,808,448	G/T	—	likely pathogenic
rs2528739382	2:241,808,457	G/C	—	likely benign
rs201989825	2:241,808,459	G/C	—	conflicting classifications of pathogenicity
rs66494441	2:241,808,463	A/T	—	likely benign
rs201390940	2:241,808,466	C/T	—	likely benign
rs755920918	2:241,808,467	G/A	—	likely benign
rs57017537	2:241,808,487	A/C	—	likely benign
rs58120546	2:241,808,491	T/A	—	uncertain significance
rs180177175	2:241,808,530	C/T	—	uncertain significance
rs114401766	2:241,808,531	C/T	—	uncertain significance
rs180177179	2:241,808,533	C/T	—	uncertain significance
rs180177178	2:241,808,540	T/C	—	uncertain significance
rs2106427495	2:241,808,570	A/T	—	likely benign
rs2528739903	2:241,808,572	A/G	—	likely benign
rs180177176	2:241,808,573	C/T	—	likely benign
rs2528739917	2:241,808,577	C/A	—	likely benign
rs776061925	2:241,808,578	C/T	—	likely benign
rs377564684	2:241,808,579	G/A	—	likely benign
rs180177177	2:241,808,586	G/A	—	pathogenic
rs180177180	2:241,808,588	T/A	missense variant	pathogenic
rs774651961	2:241,808,593	G/A	—	uncertain significance
rs761756536	2:241,808,595	C/A	—	uncertain significance
rs767586362	2:241,808,596	G/T	stop gained	pathogenic
rs180177181	2:241,808,608	G/C	missense variant	pathogenic
rs760666036	2:241,808,609	G/A	—	conflicting classifications of pathogenicity
rs1030478832	2:241,808,610	C/T	—	likely benign
rs2528739981	2:241,808,611	A/T	—	conflicting classifications of pathogenicity
rs2528739984	2:241,808,612	T/A	—	likely pathogenic
rs890310872	2:241,808,616	G/A	—	likely benign
rs121908521	2:241,808,619	C/G	stop gained	pathogenic
rs2106427539	2:241,808,624	T/C	—	uncertain significance
rs180177182	2:241,808,626	C/T	stop gained	pathogenic
rs2106427541	2:241,808,628	G/A	—	likely benign
rs796052058	2:241,808,630	C/A	missense variant	pathogenic
rs2106427547	2:241,808,631	C/T	—	likely benign
rs771860599	2:241,808,634	G/A	—	likely benign
rs754637713	2:241,808,635	A/C	—	conflicting classifications of pathogenicity
rs113879010	2:241,808,636	A/T	—	pathogenic
rs202108064	2:241,808,637	C/G	—	conflicting classifications of pathogenicity

Showing 100 of 647 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.