ASS1

argininosuccinate synthase 1

Summary

The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012]

Known Variants632 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs928360571	9:133,320,088	G/C	—	uncertain significance
rs563156422	9:133,320,110	G/T	—	uncertain significance
rs2071367	9:133,320,127	G/T	—	benign
rs567339064	9:133,320,146	G/C	—	uncertain significance
rs886063526	9:133,320,155	G/C	—	uncertain significance
rs1427339813	9:133,320,171	G/T	—	uncertain significance
rs886063527	9:133,320,185	C/G	—	uncertain significance
rs886063528	9:133,320,203	A/G	—	uncertain significance
rs569832736	9:133,320,213	G/A	—	likely benign
rs142263406	9:133,320,216	C/T	—	benign
rs886063529	9:133,320,217	G/A	—	uncertain significance
rs886063531	9:133,320,287	C/G	—	uncertain significance
rs1554980960	9:133,320,378	G/A	—	likely benign
rs151254686	9:133,320,426	G/C	—	likely benign
rs6597680	9:133,320,449	A/C	—	benign
rs549216391	9:133,325,696	C/T	—	likely benign
rs184403245	9:133,325,707	G/A	—	likely benign
rs12004384	9:133,325,728	C/T	—	benign
rs114084616	9:133,327,311	G/A	—	likely benign
rs150904366	9:133,327,396	G/A	—	likely benign
rs1760275	9:133,327,439	T/C	—	benign
rs75950322	9:133,327,518	C/T	—	likely benign
rs73541954	9:133,327,570	C/T	—	likely benign
rs770116104	9:133,327,599	G/A	—	uncertain significance
rs375136377	9:133,327,601	C/G	—	uncertain significance
rs138350285	9:133,327,612	C/T	splice region variant	pathogenic
rs750780742	9:133,327,616	A/G	—	likely pathogenic
rs1057516960	9:133,327,618	G/A	missense variant	pathogenic
rs1845344324	9:133,327,623	G/A	—	uncertain significance
rs201700775	9:133,327,629	G/C	—	uncertain significance
rs757913342	9:133,327,631	T/G	—	uncertain significance
rs555717331	9:133,327,633	C/T	—	likely benign
rs149938546	9:133,327,634	G/A	—	conflicting classifications of pathogenicity
rs1845345016	9:133,327,643	G/C	—	uncertain significance
rs574820010	9:133,327,648	C/T	—	likely benign
rs769672308	9:133,327,654	C/T	—	conflicting classifications of pathogenicity
rs121908636	9:133,327,655	G/A	missense variant	pathogenic
rs1845345426	9:133,327,657	C/G	—	likely benign
rs1045437120	9:133,327,666	C/T	—	likely benign
rs121908643	9:133,327,668	C/T	missense variant	pathogenic
rs768923973	9:133,327,669	G/A	—	likely benign
rs2490515237	9:133,327,672	C/A	—	pathogenic
rs2490515244	9:133,327,675	C/T	—	likely benign
rs774476997	9:133,327,678	C/T	—	likely benign
rs912037125	9:133,327,680	T/G	—	uncertain significance
rs1175810875	9:133,327,684	G/A	—	likely pathogenic
rs1386337873	9:133,327,699	C/A	—	likely benign
rs1457270102	9:133,327,701	A/G	—	uncertain significance
rs371519061	9:133,327,705	C/T	—	likely benign
rs142221856	9:133,327,709	A/G	—	uncertain significance
rs147842617	9:133,327,714	C/T	—	likely benign
rs1236633346	9:133,327,717	T/C	—	likely benign
rs1329809424	9:133,327,725	G/A	—	uncertain significance
rs1343459392	9:133,327,727	G/A	—	likely benign
rs1010509460	9:133,327,730	C/T	—	likely benign
rs971804615	9:133,327,731	G/A	—	likely benign
rs750278093	9:133,327,734	C/T	—	likely benign
rs755977657	9:133,327,737	G/C	—	likely benign
rs10122141	9:133,327,794	G/C	—	benign
rs1615006	9:133,327,835	A/G	—	benign
rs115788113	9:133,327,966	C/T	—	likely benign
rs149558736	9:133,328,010	C/T	—	likely benign
rs75314403	9:133,329,408	G/A	—	benign
rs80350028	9:133,329,546	C/A	—	benign
rs2490520446	9:133,329,673	C/G	—	likely benign
rs200396223	9:133,329,676	C/T	—	benign
rs77534228	9:133,329,677	G/A	—	likely benign
rs2490520489	9:133,329,678	C/T	—	likely benign
rs73541957	9:133,329,682	T/G	—	likely benign
rs2490520511	9:133,329,687	C/T	—	likely benign
rs1845388217	9:133,329,697	C/T	—	likely benign
rs2131869276	9:133,329,701	G/C	—	conflicting classifications of pathogenicity
rs1378899995	9:133,329,703	C/G	—	likely benign
rs2131869283	9:133,329,705	A/T	—	likely pathogenic
rs2490520580	9:133,329,709	G/A	—	likely benign
rs1460136199	9:133,329,710	G/A	—	uncertain significance
rs761408245	9:133,329,718	C/A	—	uncertain significance
rs766880501	9:133,329,719	G/A	—	uncertain significance
rs1301161301	9:133,329,726	C/T	—	uncertain significance
rs374695792	9:133,329,728	A/G	—	uncertain significance
rs756107583	9:133,329,730	G/A	—	likely benign
rs142350255	9:133,329,737	G/A	—	uncertain significance
rs1303466623	9:133,329,739	A/G	—	likely benign
rs2131869324	9:133,329,745	G/A	—	likely benign
rs1564902078	9:133,329,746	C/G	—	uncertain significance
rs146333243	9:133,329,751	G/A	—	likely benign
rs773150312	9:133,329,752	G/A	—	uncertain significance
rs2131869336	9:133,329,753	C/A	—	uncertain significance
rs748264993	9:133,329,761	G/T	—	pathogenic
rs368133957	9:133,329,764	C/A	—	conflicting classifications of pathogenicity
rs1845390065	9:133,329,767	G/A	—	likely benign
rs2490520770	9:133,329,768	G/T	—	likely benign
rs371597908	9:133,329,770	G/A	—	conflicting classifications of pathogenicity
rs771403927	9:133,329,771	G/A	—	conflicting classifications of pathogenicity
rs1554982247	9:133,329,774	G/A	—	likely benign
rs777018890	9:133,329,776	C/G	—	likely benign
rs759923991	9:133,329,778	G/A	—	likely benign
rs73541961	9:133,329,781	A/G	—	benign
rs7860909	9:133,331,226	A/G	intron variant	—
rs1215988	9:133,332,555	G/A	—	benign

Showing 100 of 632 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.