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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 ENSG00000145494:

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
ENSG00000145494	NDUFS6	1	42	9	ENSG00000145494	ENST00000274137	ENSP00000274137	NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase) [Source:HGNC Symbol;Acc:7713]	5	1801514	1816719	1	p15.33	1801514	1816719	NDUFS6	NDUFS6-001	HGNC Symbol	HGNC transcript name	3	48.37	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	4726	7713	NDUFS6	NM_004553	27527

MSeqDR Master Exome Data Set M1: 31 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	5	1801520	C	T	ENST00000274137	ENSG00000145494	1801514	1816719	ENSP00000274137	NDUFS6	1	NDUS6_HUMAN	-	-	5'_UTR	rs145747389	0.0245	T=156/C=8164;T=15/C=4217;T=171/C=12381	-	-	-	-	het	26
2	5	1801627	C	A	ENST00000274137	ENSG00000145494	1801514	1816719	ENSP00000274137	NDUFS6	1	NDUS6_HUMAN	c.96C>A	p.V32V	syn	rs140619622	0.0071	A=0/C=8558;A=40/C=4340;A=40/C=12898	-	-	-	-	het	1
3	5	1801627	C	A	ENST00000469176	ENSG00000145494	1801514	1816719	ENSP00000422557	NDUFS6	1	-	c.96C>A	p.V32V	syn	rs140619622	0.0071	A=0/C=8558;A=40/C=4340;A=40/C=12898	-	-	-	-	het	1
4	5	1801627	C	A	ENST00000510329	ENSG00000145494	1801514	1816719	-	NDUFS6	1	-	c.93C>A	p.V31V	syn	rs140619622	0.0071	A=0/C=8558;A=40/C=4340;A=40/C=12898	-	-	-	-	het	1
5	5	1801648	C	G	ENST00000274137	ENSG00000145494	1801514	1816719	ENSP00000274137	NDUFS6	1	NDUS6_HUMAN	c.117C>G	p.V39V	syn	NA	-	-	lod=75:431	-	-	-	het	1
6	5	1801648	C	G	ENST00000274137	ENSG00000145494	1801514	1816719	ENSP00000274137	NDUFS6	1	NDUS6_HUMAN	c.117C>G	p.V39V	syn	NA	-	-	lod=75:431	-	-	-	hom	1
7	5	1801648	C	G	ENST00000469176	ENSG00000145494	1801514	1816719	ENSP00000422557	NDUFS6	1	-	c.117C>G	p.V39V	syn	NA	-	-	lod=75:431	-	-	-	het	1
8	5	1801648	C	G	ENST00000469176	ENSG00000145494	1801514	1816719	ENSP00000422557	NDUFS6	1	-	c.117C>G	p.V39V	syn	NA	-	-	lod=75:431	-	-	-	hom	1
9	5	1801648	C	G	ENST00000510329	ENSG00000145494	1801514	1816719	-	NDUFS6	1	-	c.114C>G	p.V38V	syn	NA	-	-	lod=75:431	-	-	-	het	1
10	5	1801648	C	G	ENST00000510329	ENSG00000145494	1801514	1816719	-	NDUFS6	1	-	c.114C>G	p.V38V	syn	NA	-	-	lod=75:431	-	-	-	hom	1
11	5	1802244	C	G	ENST00000510329	ENSG00000145494	1801514	1816719	-	NDUFS6	1	-	-	-	-19bp 3'_splice_site	rs111398973	0.00872	-	-	-	-	-	het	2
12	5	1802311	T	C	ENST00000510329	ENSG00000145494	1801514	1816719	-	NDUFS6	1	-	c.178T>C	p.L60L	syn	NA	-	-	-	-	-	-	het	1
13	5	1802326	T	C	ENST00000510329	ENSG00000145494	1801514	1816719	-	NDUFS6	1	-	c.193T>C	p.W65R	non-syn	rs112880420	0.0072	-	-	-	-	-	het	1
14	5	1802353	C	G	ENST00000510329	ENSG00000145494	1801514	1816719	-	NDUFS6	1	-	c.220C>G	p.P74A	non-syn	rs115621822	0.0449	-	-	-	-	-	het	2
15	5	1802373	T	C	ENST00000510329	ENSG00000145494	1801514	1816719	-	NDUFS6	1	-	c.240T>C	p.D80D	syn	NA	-	-	-	-	-	-	het	1
16	5	1814464	C	T	ENST00000274137	ENSG00000145494	1801514	1816719	ENSP00000274137	NDUFS6	1	NDUS6_HUMAN	c.198C>T	p.N66N	syn	rs140887831	-	T=3/C=8597;T=0/C=4406;T=3/C=13003	lod=109:471	-	-	-	het	1
17	5	1814464	C	T	ENST00000469176	ENSG00000145494	1801514	1816719	ENSP00000422557	NDUFS6	1	-	c.198C>T	p.N66N	syn	rs140887831	-	T=3/C=8597;T=0/C=4406;T=3/C=13003	lod=109:471	-	-	-	het	1
18	5	1814757	C	T	ENST00000469176	ENSG00000145494	1801514	1816719	ENSP00000422557	NDUFS6	1	-	c.491C>T	p.A164V	non-syn	rs147303089	0.0021	-	-	-	-	-	het	3
19	5	1814783	T	C	ENST00000469176	ENSG00000145494	1801514	1816719	ENSP00000422557	NDUFS6	1	-	c.517T>C	p.*173R	non-syn	rs4147773	0.8815	-	-	-	-	-	hom	518
20	5	1814783	T	C	ENST00000469176	ENSG00000145494	1801514	1816719	ENSP00000422557	NDUFS6	1	-	c.517T>C	p.*173R	non-syn	rs4147773	0.8815	-	-	-	-	-	het	177

** A friendly reminder: guest user can access up to first 20 entries per gene from MSeqDR Master Exome Data Set M1. To gain access to the full power of MSeqDR, please login, or register, then request access to data.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
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and click "Export" button to save as csv.

Transcripts and variants in the surrounding NDUFS6 5:1801514..1816719 region Gbrowse