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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Central Portal

MSeqDR Data Summary for the Term QARS:

Ensembl Gene ID	Associated Gene Name	LSDB Genes	LSDB Variants	clinVar hits	Ensembl Gene ID	Ensembl Transcript ID	Ensembl Protein ID	Description	Chr	Gene Start	Gene End	Strand	Band	Transcript Start bp	Transcript End bp	Associated Gene Name	Associated Transcript Name	Associated Gene DB	Associated Transcript DB	Transcript count	pct GC content	Gene Biotype	Transcript Biotype	Source Gene	Source Transcript	Status gene	Status transcript	EntrezGene ID	HGNC ID	HGNC Symbol	RefSeq mRNA	Seq region id
ENSG00000172053	QARS	0	0	4	ENSG00000172053	ENST00000482261		glutaminyl-tRNA synthetase [Source:HGNC Symbol;Acc:9751]	3	49133365	49142553	-1	p21.31	49139261	49142162	QARS	QARS-024	HGNC Symbol	HGNC transcript name	26	53.42	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	5859	9751	QARS		27517

MSeqDR Master Exome Data Set M1: 374 entries from same gene

No.	Chr	Position	Reference	Variant	EnsemblTranscriptID	EnsemblGeneID	Gene_Start	Gene_End	EnsemblProteinID	Gene	strand	Uniprot	cChange	pChange	Nature	dbSNP	Freq	EVS	phastCons	SIFT	Polyphen	HGMD	type	samples
1	3	49133416	G	T	ENST00000306125	ENSG00000172053	49133365	49142553	ENSP00000307567	QARS	-1	SYQ_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
2	3	49133416	G	T	ENST00000414533	ENSG00000172053	49133365	49142553	ENSP00000390015	QARS	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
3	3	49133416	G	T	ENST00000430182	ENSG00000172053	49133365	49142553	ENSP00000389823	QARS	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
4	3	49133416	G	T	ENST00000453392	ENSG00000172053	49133365	49142553	ENSP00000396326	QARS	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
5	3	49133416	G	T	ENST00000459870	ENSG00000172053	49133365	49142553	-	QARS	-1	-	c.946C>A	p.P316T	non-syn	NA	-	-	-	-	-	-	het	2
6	3	49133416	G	T	ENST00000464962	ENSG00000172053	49133365	49142553	-	QARS	-1	-	c.2297C>A	p.T766N	non-syn	NA	-	-	-	-	-	-	het	2
7	3	49133416	G	T	ENST00000470113	ENSG00000172053	49133365	49142553	-	QARS	-1	-	c.932C>A	p.T311N	non-syn	NA	-	-	-	-	-	-	het	2
8	3	49133416	G	T	ENST00000475599	ENSG00000172053	49133365	49142553	-	QARS	-1	-	c.230C>A	p.T77N	non-syn	NA	-	-	-	-	-	-	het	2
9	3	49133416	G	T	ENST00000482248	ENSG00000172053	49133365	49142553	-	QARS	-1	-	c.854C>A	p.T285N	non-syn	NA	-	-	-	-	-	-	het	2
10	3	49133416	G	T	ENST00000487495	ENSG00000172053	49133365	49142553	-	QARS	-1	-	c.401C>A	p.T134N	non-syn	NA	-	-	-	-	-	-	het	2
11	3	49133416	G	T	ENST00000494984	ENSG00000172053	49133365	49142553	-	QARS	-1	-	c.630C>A	p.Y210*	non-syn	NA	-	-	-	-	-	-	het	2
12	3	49133416	G	T	ENST00000497635	ENSG00000172053	49133365	49142553	-	QARS	-1	-	c.336C>A	p.Y112*	non-syn	NA	-	-	-	-	-	-	het	2
13	3	49133426	C	T	ENST00000306125	ENSG00000172053	49133365	49142553	ENSP00000307567	QARS	-1	SYQ_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
14	3	49133426	C	T	ENST00000414533	ENSG00000172053	49133365	49142553	ENSP00000390015	QARS	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
15	3	49133426	C	T	ENST00000430182	ENSG00000172053	49133365	49142553	ENSP00000389823	QARS	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
16	3	49133426	C	T	ENST00000453392	ENSG00000172053	49133365	49142553	ENSP00000396326	QARS	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
17	3	49133426	C	T	ENST00000459870	ENSG00000172053	49133365	49142553	-	QARS	-1	-	c.936G>A	p.R312R	syn	NA	-	-	-	-	-	-	het	2
18	3	49133426	C	T	ENST00000464962	ENSG00000172053	49133365	49142553	-	QARS	-1	-	c.2287G>A	p.G763S	non-syn	NA	-	-	-	-	-	-	het	2
19	3	49133426	C	T	ENST00000470113	ENSG00000172053	49133365	49142553	-	QARS	-1	-	c.922G>A	p.G308S	non-syn	NA	-	-	-	-	-	-	het	2
20	3	49133426	C	T	ENST00000475599	ENSG00000172053	49133365	49142553	-	QARS	-1	-	c.220G>A	p.G74S	non-syn	NA	-	-	-	-	-	-	het	2

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Transcripts and variants in the surrounding QARS 3:49133365..49142553 region Gbrowse