AASS

aminoadipate-semialdehyde synthase

Summary

This gene encodes a bifunctional enzyme that catalyzes the first two steps in the mammalian lysine degradation pathway. The N-terminal and the C-terminal portions of this enzyme contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively, resulting in the conversion of lysine to alpha-aminoadipic semialdehyde. Mutations in this gene are associated with familial hyperlysinemia. [provided by RefSeq, Jul 2008]

Known Variants170 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs140285200	7:121,716,562	T/C	—	uncertain significance
rs770967736	7:121,716,595	C/T	—	uncertain significance
rs145309509	7:121,716,610	C/T	—	benign
rs150180890	7:121,716,613	T/C	—	uncertain significance
rs775186542	7:121,716,655	A/G	—	uncertain significance
rs768298788	7:121,717,920	G/A	—	likely benign
rs761594354	7:121,717,921	G/T	—	uncertain significance
rs138726205	7:121,717,960	T/C	—	uncertain significance
rs2150506235	7:121,718,014	G/A	—	uncertain significance
rs370656085	7:121,718,017	T/C	—	uncertain significance
rs2150506255	7:121,718,038	C/T	—	uncertain significance
rs566866368	7:121,718,042	T/C	—	uncertain significance
rs1466253341	7:121,718,906	C/G	—	likely benign
rs574621404	7:121,718,933	A/T	—	uncertain significance
rs73441002	7:121,718,942	T/G	—	uncertain significance
rs1027015345	7:121,718,973	G/A	—	likely pathogenic
rs2485979609	7:121,719,005	C/A	—	likely pathogenic
rs180824698	7:121,719,020	G/A	—	likely benign
rs1206368	7:121,719,586	C/T	—	benign
rs2485981218	7:121,719,663	T/C	—	uncertain significance
rs753158874	7:121,719,674	A/T	—	uncertain significance
rs546113656	7:121,719,697	G/T	—	uncertain significance
rs147475291	7:121,719,708	T/G	—	uncertain significance
rs147414883	7:121,719,730	A/T	—	uncertain significance
rs531931836	7:121,719,733	G/A	—	uncertain significance
rs139513373	7:121,719,735	G/A	—	uncertain significance
rs2485981401	7:121,719,747	A/C	—	uncertain significance
rs1206369	7:121,719,823	G/A	—	benign
rs374884203	7:121,721,535	G/A	—	likely benign
rs1584808186	7:121,721,556	A/G	—	uncertain significance
rs150922740	7:121,721,558	G/C	—	conflicting classifications of pathogenicity
rs372679186	7:121,721,594	G/A	—	uncertain significance
rs758445857	7:121,721,610	G/A	—	uncertain significance
rs1417163654	7:121,721,613	C/T	—	uncertain significance
rs368322844	7:121,721,659	G/T	—	benign
rs3213699	7:121,725,961	G/A	—	benign
rs369466086	7:121,726,085	C/T	—	uncertain significance
rs149674194	7:121,726,132	C/T	—	likely benign
rs2485992128	7:121,726,134	T/C	—	uncertain significance
rs2150511876	7:121,726,150	A/C	—	pathogenic
rs554016813	7:121,726,176	A/G	—	uncertain significance
rs2485992261	7:121,726,179	A/C	—	uncertain significance
rs117830956	7:121,726,194	C/T	—	uncertain significance
rs145793131	7:121,726,195	G/A	—	likely benign
rs1488099075	7:121,726,223	A/C	—	uncertain significance
rs1288280443	7:121,731,757	C/G	—	uncertain significance
rs202247760	7:121,731,783	A/G	—	uncertain significance
rs377317222	7:121,731,784	C/A	—	uncertain significance
rs2486001303	7:121,731,835	C/T	—	likely benign
rs747867276	7:121,731,839	G/A	—	uncertain significance
rs587777124	7:121,731,848	G/C	stop gained	pathogenic
rs2486001396	7:121,731,864	G/C	—	uncertain significance
rs775625653	7:121,731,867	G/C	—	uncertain significance
rs184615552	7:121,731,889	T/C	—	benign
rs1793918338	7:121,731,897	T/C	—	uncertain significance
rs750899741	7:121,731,915	A/G	—	likely benign
rs13232539	7:121,732,097	A/T	—	benign
rs1433519188	7:121,732,898	G/T	—	uncertain significance
rs1323309632	7:121,732,908	C/T	—	uncertain significance
rs777194593	7:121,732,994	G/A	—	uncertain significance
rs141402102	7:121,732,998	C/A	—	uncertain significance
rs745643453	7:121,733,006	C/T	—	pathogenic
rs202057188	7:121,733,133	T/A	—	benign
rs374593704	7:121,733,135	T/C	—	uncertain significance
rs1584828819	7:121,733,137	G/A	—	likely benign
rs749996209	7:121,733,143	A/T	—	likely benign
rs749306292	7:121,733,160	T/C	—	uncertain significance
rs1185748333	7:121,733,162	T/C	—	likely benign
rs114698875	7:121,733,187	G/A	—	uncertain significance
rs74882337	7:121,733,190	A/G	—	likely benign
rs1163753771	7:121,733,230	A/G	—	likely benign
rs755010221	7:121,738,496	A/T	—	likely benign
rs387906333	7:121,738,550	—	—	pathogenic
rs1584840247	7:121,738,569	G/A	—	likely benign
rs142898814	7:121,738,605	T/G	—	uncertain significance
rs564539285	7:121,738,620	C/A	—	uncertain significance
rs533476674	7:121,738,625	C/T	—	likely benign
rs200857543	7:121,738,633	A/G	—	conflicting classifications of pathogenicity
rs777954611	7:121,738,643	T/C	—	uncertain significance
rs201389071	7:121,738,650	T/C	—	benign
rs186519593	7:121,738,782	A/G	—	likely benign
rs369170463	7:121,738,830	T/C	—	likely benign
rs147394896	7:121,738,854	T/C	—	uncertain significance
rs149477201	7:121,738,893	G/A	—	likely benign
rs775167151	7:121,738,906	G/A	—	uncertain significance
rs279663	7:121,741,223	G/C	—	benign
rs3213700	7:121,741,411	T/G	—	benign
rs1011506361	7:121,741,438	G/C	—	uncertain significance
rs753077687	7:121,741,461	T/A	—	uncertain significance
rs768275798	7:121,741,486	T/G	—	conflicting classifications of pathogenicity
rs73442839	7:121,741,662	G/T	—	benign
rs764485378	7:121,741,665	C/T	—	likely benign
rs34901960	7:121,741,720	C/T	—	benign
rs771862141	7:121,741,722	C/T	—	uncertain significance
rs1273190060	7:121,741,725	C/T	—	uncertain significance
rs770867485	7:121,741,731	A/C	—	uncertain significance
rs13223149	7:121,741,857	A/C	—	benign
rs541274246	7:121,753,153	A/G	—	benign
rs1486624394	7:121,753,165	T/C	—	likely benign
rs587777126	7:121,753,194	A/C	missense variant	pathogenic

Showing 100 of 170 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.