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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 ENSG00000198886:

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
ENSG00000198886	MT-ND4	1	285	6	ENSG00000198886	ENST00000361381	ENSP00000354961	mitochondrially encoded NADH dehydrogenase 4 [Source:HGNC Symbol;Acc:7459]	M	10760	12137	1		10760	12137	MT-ND4	MT-ND4-201	HGNC Symbol	HGNC transcript name	1	44.27	protein_coding	protein_coding	insdc	insdc	KNOWN	KNOWN	4538	7459	MT-ND4		100965601

MSeqDR Master Exome Data Set M1: 132 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	10771	A	G	ENST00000361381	ENSG00000198886	10760	12137	ENSP00000354961	MT-ND4	1	NU4M_HUMAN	c.12A>G	p.L4L	syn	NA	-	-	-	-	-	-	hom	1
2	M	10790	T	C	ENST00000361381	ENSG00000198886	10760	12137	ENSP00000354961	MT-ND4	1	NU4M_HUMAN	c.31T>C	p.L11L	syn	rs28488153	-	-	lod=20:289	-	-	-	hom	1
3	M	10792	A	G	ENST00000361381	ENSG00000198886	10760	12137	ENSP00000354961	MT-ND4	1	NU4M_HUMAN	c.33A>G	p.L11L	syn	NA	-	-	lod=20:289	-	-	-	hom	1
4	M	10810	T	C	ENST00000361381	ENSG00000198886	10760	12137	ENSP00000354961	MT-ND4	1	NU4M_HUMAN	c.51T>C	p.L17L	syn	rs28358282	-	-	-	-	-	-	hom	14
5	M	10816	A	G	ENST00000361381	ENSG00000198886	10760	12137	ENSP00000354961	MT-ND4	1	NU4M_HUMAN	c.57A>G	p.K19K	syn	NA	-	-	-	-	-	-	hom	3
6	M	10819	A	G	ENST00000361381	ENSG00000198886	10760	12137	ENSP00000354961	MT-ND4	1	NU4M_HUMAN	c.60A>G	p.K20K	syn	rs28358283	-	-	-	-	-	-	hom	17
7	M	10822	C	T	ENST00000361381	ENSG00000198886	10760	12137	ENSP00000354961	MT-ND4	1	NU4M_HUMAN	c.63C>T	p.H21H	syn	rs79495532	-	-	-	-	-	-	hom	4
8	M	10845	C	T	ENST00000361381	ENSG00000198886	10760	12137	ENSP00000354961	MT-ND4	1	NU4M_HUMAN	c.86C>T	p.T29I	non-syn	NA	-	-	-	-	-	-	hom	2
9	M	10863	G	A	ENST00000361381	ENSG00000198886	10760	12137	ENSP00000354961	MT-ND4	1	NU4M_HUMAN	c.104G>A	p.S35N	non-syn	NA	-	-	-	-	-	-	hom	1
10	M	10873	T	C	ENST00000361381	ENSG00000198886	10760	12137	ENSP00000354961	MT-ND4	1	NU4M_HUMAN	c.114T>C	p.P38P	syn	rs111740989	-	-	-	-	-	-	hom	88
11	M	10873	T	C	ENST00000361381	ENSG00000198886	10760	12137	ENSP00000354961	MT-ND4	1	NU4M_HUMAN	c.114T>C	p.P38P	syn	rs111740989	-	-	-	-	-	-	het	1
12	M	10876	A	G	ENST00000361381	ENSG00000198886	10760	12137	ENSP00000354961	MT-ND4	1	NU4M_HUMAN	c.117A>G	p.L39L	syn	rs112057854	-	-	-	-	-	-	hom	3
13	M	10900	C	T	ENST00000361381	ENSG00000198886	10760	12137	ENSP00000354961	MT-ND4	1	NU4M_HUMAN	c.141C>T	p.N47N	syn	NA	-	-	-	-	-	-	hom	4
14	M	10907	T	C	ENST00000361381	ENSG00000198886	10760	12137	ENSP00000354961	MT-ND4	1	NU4M_HUMAN	c.148T>C	p.F50L	non-syn	NA	-	-	-	-	-	-	hom	7
15	M	10914	G	A	ENST00000361381	ENSG00000198886	10760	12137	ENSP00000354961	MT-ND4	1	NU4M_HUMAN	c.155G>A	p.C52T	non-syn	NA	-	-	-	-	-	-	hom	5
16	M	10915	T	C	ENST00000361381	ENSG00000198886	10760	12137	ENSP00000354961	MT-ND4	1	NU4M_HUMAN	c.156T>C	p.C52C	syn	rs112390085	-	-	-	-	-	-	het	1
17	M	10915	T	C	ENST00000361381	ENSG00000198886	10760	12137	ENSP00000354961	MT-ND4	1	NU4M_HUMAN	c.156T>C	p.C52C	syn	rs112390085	-	-	-	-	-	-	hom	8
18	M	10922	A	G	ENST00000361381	ENSG00000198886	10760	12137	ENSP00000354961	MT-ND4	1	NU4M_HUMAN	c.163A>G	p.T55A	non-syn	NA	-	-	-	-	-	-	hom	1
19	M	10933	C	T	ENST00000361381	ENSG00000198886	10760	12137	ENSP00000354961	MT-ND4	1	NU4M_HUMAN	c.174C>T	p.S58S	syn	NA	-	-	-	-	-	-	hom	3
20	M	10961	C	T	ENST00000361381	ENSG00000198886	10760	12137	ENSP00000354961	MT-ND4	1	NU4M_HUMAN	c.202C>T	p.L68L	syn	NA	-	-	-	-	-	-	hom	4

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Transcripts and variants in the surrounding MT-ND4 M:10760..12137 region Gbrowse