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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 ENSG00000156170:

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
ENSG00000156170	NDUFAF6	1	33	23	ENSG00000156170	ENST00000519804	ENSP00000430230	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 [Source:HGNC Symbol;Acc:28625]	8	95907995	96128683	1	q22.1	96046877	96059282	NDUFAF6	NDUFAF6-015	HGNC Symbol	HGNC transcript name	20	42.88	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	PUTATIVE	100506538	28625	NDUFAF6		27523

MSeqDR Master Exome Data Set M1: 356 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	8	95908067	C	G	ENST00000396113	ENSG00000156170	95907995	96128683	ENSP00000379419	NDUFAF6	1	NDUF6_HUMAN	-	-	5'_UTR	rs34208552	0.709	-	-	-	-	-	hom	1
2	8	95908067	C	G	ENST00000519136	ENSG00000156170	95907995	96128683	ENSP00000429585	NDUFAF6	1	-	-	-	5'_UTR	rs34208552	0.709	-	-	-	-	-	hom	1
3	8	95908067	C	G	ENST00000523378	ENSG00000156170	95907995	96128683	ENSP00000428034	NDUFAF6	1	-	-	-	5'_UTR	rs34208552	0.709	-	-	-	-	-	hom	1
4	8	95908078	G	T	ENST00000396113	ENSG00000156170	95907995	96128683	ENSP00000379419	NDUFAF6	1	NDUF6_HUMAN	-	-	5'_UTR	rs34293080	0.7148	-	-	-	-	-	hom	1
5	8	95908078	G	T	ENST00000519136	ENSG00000156170	95907995	96128683	ENSP00000429585	NDUFAF6	1	-	-	-	5'_UTR	rs34293080	0.7148	-	-	-	-	-	hom	1
6	8	95908078	G	T	ENST00000523378	ENSG00000156170	95907995	96128683	ENSP00000428034	NDUFAF6	1	-	-	-	5'_UTR	rs34293080	0.7148	-	-	-	-	-	hom	1
7	8	95986853	T	C	ENST00000521587	ENSG00000156170	95907995	96128683	-	NDUFAF6	1	-	c.18T>C	p.Y6Y	syn	rs80217195	0.15959	-	lod=842:689	-	-	-	het	17
8	8	95986853	T	C	ENST00000521587	ENSG00000156170	95907995	96128683	-	NDUFAF6	1	-	c.18T>C	p.Y6Y	syn	rs80217195	0.15959	-	lod=842:689	-	-	-	hom	3
9	8	95986927	A	G	ENST00000521587	ENSG00000156170	95907995	96128683	-	NDUFAF6	1	-	-	-	+6bp 5'_splice_site	rs10086284	0.73713	-	lod=842:689	-	-	-	het	108
10	8	95986927	A	G	ENST00000521587	ENSG00000156170	95907995	96128683	-	NDUFAF6	1	-	-	-	+6bp 5'_splice_site	rs10086284	0.73713	-	lod=842:689	-	-	-	hom	129
11	8	95988161	A	G	ENST00000396113	ENSG00000156170	95907995	96128683	ENSP00000379419	NDUFAF6	1	NDUF6_HUMAN	-	-	5'_UTR	rs2084968	0.72973	-	-	-	-	-	het	2
12	8	95988161	A	G	ENST00000396113	ENSG00000156170	95907995	96128683	ENSP00000379419	NDUFAF6	1	NDUF6_HUMAN	-	-	5'_UTR	rs2084968	0.72973	-	-	-	-	-	hom	1
13	8	95988209	C	T	ENST00000396113	ENSG00000156170	95907995	96128683	ENSP00000379419	NDUFAF6	1	NDUF6_HUMAN	-	-	5'_UTR	rs6983948	0.5558	-	-	-	-	-	hom	1
14	8	95988209	C	T	ENST00000396113	ENSG00000156170	95907995	96128683	ENSP00000379419	NDUFAF6	1	NDUF6_HUMAN	-	-	5'_UTR	rs6983948	0.5558	-	-	-	-	-	het	1
15	8	95993162	T	C	ENST00000396111	ENSG00000156170	95907995	96128683	ENSP00000379417	NDUFAF6	1	NDUF6_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
16	8	95993162	T	C	ENST00000396113	ENSG00000156170	95907995	96128683	ENSP00000379419	NDUFAF6	1	NDUF6_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
17	8	95993162	T	C	ENST00000521587	ENSG00000156170	95907995	96128683	-	NDUFAF6	1	-	c.264T>C	p.Y88Y	syn	NA	-	-	-	-	-	-	het	1
18	8	95993162	T	C	ENST00000521840	ENSG00000156170	95907995	96128683	-	NDUFAF6	1	-	c.27T>C	p.Y9Y	syn	NA	-	-	-	-	-	-	het	1
19	8	95993162	T	C	ENST00000523378	ENSG00000156170	95907995	96128683	ENSP00000428034	NDUFAF6	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
20	8	95993162	T	C	ENST00000542894	ENSG00000156170	95907995	96128683	ENSP00000444515	NDUFAF6	1	NDUF6_HUMAN	c.2T>C	p.M1T	non-syn	NA	-	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding NDUFAF6 8:95907995..96128683 region Gbrowse