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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 DLST:

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
ENSG00000119689	DLST	1	0	0	ENSG00000119689	ENST00000556460	ENSP00000451210	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) [Source:HGNC Symbol;Acc:2911]	14	75348594	75370448	1	q24.3	75348594	75359650	DLST	DLST-007	HGNC Symbol	HGNC transcript name	16	44.92	protein_coding	nonsense_mediated_decay	ensembl_hava	havana	KNOWN	KNOWN	1743	2911	DLST		27520

MSeqDR Master Exome Data Set M1: 350 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	14	75348626	G	A	ENST00000238671	ENSG00000119689	75348594	75370448	ENSP00000238671	DLST	1	-	-	-	5'_UTR	NA	-	-	lod=122:483	-	-	-	het	2
2	14	75348626	G	A	ENST00000334212	ENSG00000119689	75348594	75370448	ENSP00000335465	DLST	1	-	-	-	5'_UTR	NA	-	-	lod=122:483	-	-	-	het	2
3	14	75348626	G	A	ENST00000334220	ENSG00000119689	75348594	75370448	ENSP00000335304	DLST	1	ODO2_HUMAN	-	-	5'_UTR	NA	-	-	lod=122:483	-	-	-	het	2
4	14	75348626	G	A	ENST00000554612	ENSG00000119689	75348594	75370448	ENSP00000451670	DLST	1	-	-	-	5'_UTR	NA	-	-	lod=122:483	-	-	-	het	2
5	14	75348626	G	A	ENST00000555071	ENSG00000119689	75348594	75370448	-	DLST	1	-	c.2G>A	p.G1D	non-syn	NA	-	-	lod=122:483	-	-	-	het	2
6	14	75348626	G	A	ENST00000555492	ENSG00000119689	75348594	75370448	ENSP00000452417	DLST	1	-	-	-	5'_UTR	NA	-	-	lod=122:483	-	-	-	het	2
7	14	75348626	G	A	ENST00000556460	ENSG00000119689	75348594	75370448	ENSP00000451210	DLST	1	-	-	-	5'_UTR	NA	-	-	lod=122:483	-	-	-	het	2
8	14	75348626	G	A	ENST00000556582	ENSG00000119689	75348594	75370448	-	DLST	1	-	c.8G>A	p.G3D	non-syn	NA	-	-	lod=122:483	-	-	-	het	2
9	14	75348626	G	A	ENST00000557012	ENSG00000119689	75348594	75370448	-	DLST	1	-	c.10G>A	p.V4M	non-syn	NA	-	-	lod=122:483	-	-	-	het	2
10	14	75348647	C	T	ENST00000238671	ENSG00000119689	75348594	75370448	ENSP00000238671	DLST	1	-	-	-	5'_UTR	NA	-	-	lod=122:483	-	-	-	het	2
11	14	75348647	C	T	ENST00000334212	ENSG00000119689	75348594	75370448	ENSP00000335465	DLST	1	-	-	-	5'_UTR	NA	-	-	lod=122:483	-	-	-	het	2
12	14	75348647	C	T	ENST00000334220	ENSG00000119689	75348594	75370448	ENSP00000335304	DLST	1	ODO2_HUMAN	-	-	5'_UTR	NA	-	-	lod=122:483	-	-	-	het	2
13	14	75348647	C	T	ENST00000554612	ENSG00000119689	75348594	75370448	ENSP00000451670	DLST	1	-	-	-	5'_UTR	NA	-	-	lod=122:483	-	-	-	het	2
14	14	75348647	C	T	ENST00000555071	ENSG00000119689	75348594	75370448	-	DLST	1	-	c.23C>T	p.P8L	non-syn	NA	-	-	lod=122:483	-	-	-	het	2
15	14	75348647	C	T	ENST00000555089	ENSG00000119689	75348594	75370448	ENSP00000452422	DLST	1	-	-	-	5'_UTR	NA	-	-	lod=122:483	-	-	-	het	2
16	14	75348647	C	T	ENST00000555190	ENSG00000119689	75348594	75370448	-	DLST	1	-	c.20C>T	p.P7L	non-syn	NA	-	-	lod=122:483	-	-	-	het	2
17	14	75348647	C	T	ENST00000555459	ENSG00000119689	75348594	75370448	-	DLST	1	-	c.20C>T	p.P7L	non-syn	NA	-	-	lod=122:483	-	-	-	het	2
18	14	75348647	C	T	ENST00000555492	ENSG00000119689	75348594	75370448	ENSP00000452417	DLST	1	-	-	-	5'_UTR	NA	-	-	lod=122:483	-	-	-	het	2
19	14	75348647	C	T	ENST00000556190	ENSG00000119689	75348594	75370448	-	DLST	1	-	c.20C>T	p.P7L	non-syn	NA	-	-	lod=122:483	-	-	-	het	2
20	14	75348647	C	T	ENST00000556460	ENSG00000119689	75348594	75370448	ENSP00000451210	DLST	1	-	-	-	5'_UTR	NA	-	-	lod=122:483	-	-	-	het	2

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Transcripts and variants in the surrounding DLST 14:75348594..75370448 region Gbrowse