DARS1

aspartyl-tRNA synthetase 1

Summary

This gene encodes a member of a multienzyme complex that functions in mediating the attachment of amino acids to their cognate tRNAs. The encoded protein ligates L-aspartate to tRNA(Asp). Mutations in this gene have been found in patients showing hypomyelination with brainstem and spinal cord involvement and leg spasticity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

Known Variants173 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs773488177	2:136,664,899	C/T	—	uncertain significance
rs763133905	2:136,664,900	G/A	—	uncertain significance
rs1259765971	2:136,664,902	T/G	—	uncertain significance
rs1020492946	2:136,664,906	G/C	—	uncertain significance
rs967111310	2:136,664,911	C/T	—	likely pathogenic
rs147077598	2:136,664,912	G/C	missense variant	pathogenic
rs753793246	2:136,664,932	C/T	—	uncertain significance
rs587776984	2:136,664,933	G/A	missense variant	pathogenic
rs2467342594	2:136,664,951	G/C	—	uncertain significance
rs370805809	2:136,664,960	T/G	—	uncertain significance
rs2467342620	2:136,664,966	C/T	—	uncertain significance
rs76296777	2:136,664,975	A/G	—	benign
rs114428384	2:136,666,754	T/C	intron variant	—
rs757088316	2:136,668,690	A/C	—	likely benign
rs115253602	2:136,668,691	G/A	—	benign
rs148806569	2:136,668,732	G/A	—	conflicting classifications of pathogenicity
rs2467347417	2:136,668,743	G/A	—	likely benign
rs587776985	2:136,668,744	C/A	missense variant	pathogenic
rs1803167	2:136,668,749	G/C	—	likely benign
rs199507494	2:136,668,787	A/G	—	likely benign
rs115876148	2:136,668,938	T/C	—	benign
rs2467347850	2:136,668,940	T/C	—	likely benign
rs751541575	2:136,668,986	T/C	—	likely benign
rs2104792676	2:136,668,996	T/C	—	uncertain significance
rs1680894122	2:136,669,006	G/A	—	uncertain significance
rs764550705	2:136,669,009	C/T	—	uncertain significance
rs377510027	2:136,669,017	A/G	—	conflicting classifications of pathogenicity
rs1558775639	2:136,669,033	T/C	—	uncertain significance
rs779248283	2:136,669,045	C/T	—	uncertain significance
rs2104793090	2:136,669,518	T/C	—	uncertain significance
rs369649828	2:136,670,039	A/G	—	likely benign
rs1680916790	2:136,670,043	C/T	—	likely benign
rs759006916	2:136,670,048	T/C	—	likely benign
rs747031340	2:136,670,055	C/T	—	uncertain significance
rs770613720	2:136,670,076	T/C	—	uncertain significance
rs1680917915	2:136,670,095	A/G	—	likely benign
rs373077996	2:136,670,128	T/C	—	likely benign
rs199776135	2:136,670,141	A/C	—	conflicting classifications of pathogenicity
rs780107435	2:136,672,024	T/C	—	likely benign
rs1365229083	2:136,672,031	A/C	—	uncertain significance
rs373337130	2:136,672,032	G/T	—	likely benign
rs2467352133	2:136,672,036	T/G	—	uncertain significance
rs761230959	2:136,672,059	C/G	missense variant	pathogenic
rs769425671	2:136,672,063	C/T	—	likely benign
rs577768787	2:136,672,069	T/C	—	likely benign
rs201935657	2:136,672,091	A/G	—	likely benign
rs760097666	2:136,672,094	C/T	—	likely benign
rs769215712	2:136,673,798	C/G	—	likely benign
rs1452519264	2:136,673,800	G/A	—	likely benign
rs370064817	2:136,673,803	C/A	missense variant	pathogenic
rs2228660	2:136,673,814	C/T	—	conflicting classifications of pathogenicity
rs760769694	2:136,673,819	T/C	—	likely benign
rs754076040	2:136,673,822	G/A	—	likely benign
rs757619447	2:136,673,824	C/T	—	likely benign
rs374983029	2:136,673,826	C/T	—	uncertain significance
rs551067324	2:136,673,833	C/T	—	uncertain significance
rs1681004452	2:136,673,878	G/T	—	uncertain significance
rs200308019	2:136,673,879	C/A	—	uncertain significance
rs2467354900	2:136,673,899	C/T	—	uncertain significance
rs1681004873	2:136,673,902	A/G	—	uncertain significance
rs2467354948	2:136,673,915	A/G	—	likely benign
rs1681005283	2:136,673,917	T/G	—	uncertain significance
rs527362431	2:136,673,934	G/C	—	uncertain significance
rs368203227	2:136,673,957	A/G	—	likely benign
rs309172	2:136,674,028	A/G	—	benign
rs114832662	2:136,677,052	G/C	—	—
rs113342018	2:136,677,919	G/T	—	benign
rs1426607525	2:136,678,006	C/T	—	likely benign
rs372821057	2:136,678,020	T/A	—	uncertain significance
rs765480231	2:136,678,033	G/A	—	uncertain significance
rs752371133	2:136,678,038	T/C	—	uncertain significance
rs753804867	2:136,678,054	T/C	—	uncertain significance
rs367838391	2:136,678,074	A/G	—	uncertain significance
rs200897445	2:136,678,082	G/A	—	likely benign
rs201938327	2:136,678,084	G/C	—	uncertain significance
rs369617769	2:136,678,124	A/C	—	uncertain significance
rs1681092568	2:136,678,137	T/G	—	uncertain significance
rs527236040	2:136,678,143	T/A	missense variant	pathogenic
rs771004104	2:136,678,150	T/A	—	uncertain significance
rs112205661	2:136,678,160	C/T	synonymous variant	likely benign
rs369152939	2:136,678,161	G/A	missense variant	pathogenic
rs60318326	2:136,680,363	T/C	—	benign
rs1215736567	2:136,680,398	A/T	—	uncertain significance
rs886037635	2:136,680,399	T/G	missense variant	pathogenic
rs146171447	2:136,680,400	T/A	—	uncertain significance
rs145963861	2:136,680,412	C/T	—	likely benign
rs1226552885	2:136,680,437	T/C	—	uncertain significance
rs139872602	2:136,680,467	T/C	—	uncertain significance
rs150772058	2:136,680,474	C/T	—	uncertain significance
rs309158	2:136,680,534	A/G	—	benign
rs771748845	2:136,681,951	G/A	—	uncertain significance
rs200961740	2:136,681,962	A/G	—	uncertain significance
rs762103968	2:136,681,966	T/C	—	uncertain significance
rs751774677	2:136,681,989	A/G	—	uncertain significance
rs2467369242	2:136,682,011	C/G	—	uncertain significance
rs1681172606	2:136,682,030	G/A	—	likely benign
rs771698175	2:136,682,034	G/C	—	uncertain significance
rs141522501	2:136,682,043	C/T	—	conflicting classifications of pathogenicity
rs768303311	2:136,682,044	G/A	—	uncertain significance
rs1482464124	2:136,682,050	C/T	—	uncertain significance

Showing 100 of 173 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.