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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 ENSG00000198840:

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
ENSG00000198840	MT-ND3	1	75	7	ENSG00000198840	ENST00000361227	ENSP00000355206	mitochondrially encoded NADH dehydrogenase 3 [Source:HGNC Symbol;Acc:7458]	M	10059	10404	1		10059	10404	MT-ND3	MT-ND3-201	HGNC Symbol	HGNC transcript name	1	40.17	protein_coding	protein_coding	insdc	insdc	KNOWN	KNOWN	4537	7458	MT-ND3		100965601

MSeqDR Master Exome Data Set M1: 29 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	M	10084	T	C	ENST00000361227	ENSG00000198840	10059	10404	ENSP00000355206	MT-ND3	1	NU3M_HUMAN	c.26T>C	p.I9T	non-syn	rs41487950	-	-	-	-	-	-	hom	9
2	M	10086	A	G	ENST00000361227	ENSG00000198840	10059	10404	ENSP00000355206	MT-ND3	1	NU3M_HUMAN	c.28A>G	p.N10D	non-syn	rs28358274	-	-	-	-	-	-	hom	1
3	M	10088	C	T	ENST00000361227	ENSG00000198840	10059	10404	ENSP00000355206	MT-ND3	1	NU3M_HUMAN	c.30C>T	p.N10N	syn	NA	-	-	-	-	-	-	hom	2
4	M	10097	A	G	ENST00000361227	ENSG00000198840	10059	10404	ENSP00000355206	MT-ND3	1	NU3M_HUMAN	c.39A>G	p.L13L	syn	NA	-	-	-	-	-	-	hom	2
5	M	10115	T	C	ENST00000361227	ENSG00000198840	10059	10404	ENSP00000355206	MT-ND3	1	NU3M_HUMAN	c.57T>C	p.I19I	syn	rs3899188	-	-	-	-	-	-	hom	6
6	M	10142	C	T	ENST00000361227	ENSG00000198840	10059	10404	ENSP00000355206	MT-ND3	1	NU3M_HUMAN	c.84C>T	p.N28N	syn	NA	-	-	-	-	-	-	hom	5
7	M	10143	G	A	ENST00000361227	ENSG00000198840	10059	10404	ENSP00000355206	MT-ND3	1	NU3M_HUMAN	c.85G>A	p.G29S	non-syn	NA	-	-	-	-	-	-	hom	1
8	M	10166	T	C	ENST00000361227	ENSG00000198840	10059	10404	ENSP00000355206	MT-ND3	1	NU3M_HUMAN	c.108T>C	p.P36P	syn	NA	-	-	lod=22:300	-	-	-	hom	3
9	M	10166	T	C	ENST00000361227	ENSG00000198840	10059	10404	ENSP00000355206	MT-ND3	1	NU3M_HUMAN	c.108T>C	p.P36P	syn	NA	-	-	lod=22:300	-	-	-	het	1
10	M	10172	G	A	ENST00000361227	ENSG00000198840	10059	10404	ENSP00000355206	MT-ND3	1	NU3M_HUMAN	c.114G>A	p.E38E	syn	NA	-	-	lod=41:366	-	-	-	hom	5
11	M	10217	A	G	ENST00000361227	ENSG00000198840	10059	10404	ENSP00000355206	MT-ND3	1	NU3M_HUMAN	c.159A>G	p.M53M	syn	rs75862846	-	-	lod=37:355	-	-	-	hom	4
12	M	10235	T	C	ENST00000361227	ENSG00000198840	10059	10404	ENSP00000355206	MT-ND3	1	NU3M_HUMAN	c.177T>C	p.A59A	syn	NA	-	-	lod=22:300	-	-	-	hom	1
13	M	10238	T	C	ENST00000361227	ENSG00000198840	10059	10404	ENSP00000355206	MT-ND3	1	NU3M_HUMAN	c.180T>C	p.I60I	syn	rs112908918	-	-	lod=24:309	-	-	-	hom	20
14	M	10248	T	C	ENST00000361227	ENSG00000198840	10059	10404	ENSP00000355206	MT-ND3	1	NU3M_HUMAN	c.190T>C	p.L64L	syn	NA	-	-	-	-	-	-	hom	1
15	M	10262	A	G	ENST00000361227	ENSG00000198840	10059	10404	ENSP00000355206	MT-ND3	1	NU3M_HUMAN	c.204A>G	p.E68E	syn	NA	-	-	lod=82:440	-	-	-	hom	1
16	M	10265	T	C	ENST00000361227	ENSG00000198840	10059	10404	ENSP00000355206	MT-ND3	1	NU3M_HUMAN	c.207T>C	p.I69I	syn	NA	-	-	lod=82:440	-	-	-	hom	1
17	M	10289	A	G	ENST00000361227	ENSG00000198840	10059	10404	ENSP00000355206	MT-ND3	1	NU3M_HUMAN	c.231A>G	p.W77W	syn	NA	-	-	lod=36:352	-	-	-	hom	4
18	M	10293	C	T	ENST00000361227	ENSG00000198840	10059	10404	ENSP00000355206	MT-ND3	1	NU3M_HUMAN	c.235C>T	p.L79L	syn	NA	-	-	-	-	-	-	hom	1
19	M	10306	A	C	ENST00000361227	ENSG00000198840	10059	10404	ENSP00000355206	MT-ND3	1	NU3M_HUMAN	c.248A>C	p.N83T	non-syn	NA	-	-	-	-	-	-	het	5
20	M	10306	A	C	ENST00000361227	ENSG00000198840	10059	10404	ENSP00000355206	MT-ND3	1	NU3M_HUMAN	c.248A>C	p.N83T	non-syn	NA	-	-	-	-	-	-	hom	1

** 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.

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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding MT-ND3 M:10059..10404 region Gbrowse