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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 ENSG00000198712:

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
ENSG00000198712	MT-CO2	1	190	5	ENSG00000198712	ENST00000361739	ENSP00000354876	mitochondrially encoded cytochrome c oxidase II [Source:HGNC Symbol;Acc:7421]	M	7586	8269	1		7586	8269	MT-CO2	MT-CO2-201	HGNC Symbol	HGNC transcript name	1	46.2	protein_coding	protein_coding	insdc	insdc	KNOWN	KNOWN	4513	7421	MT-CO2		100965601

MSeqDR Master Exome Data Set M1: 70 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	7598	G	A	ENST00000361739	ENSG00000198712	7586	8269	ENSP00000354876	MT-CO2	1	COX2_HUMAN	c.13G>A	p.A5T	non-syn	NA	-	-	-	-	-	-	hom	6
2	M	7600	G	A	ENST00000361739	ENSG00000198712	7586	8269	ENSP00000354876	MT-CO2	1	COX2_HUMAN	c.15G>A	p.A5A	syn	rs74747463	-	-	-	-	-	-	hom	2
3	M	7608	G	C	ENST00000361739	ENSG00000198712	7586	8269	ENSP00000354876	MT-CO2	1	COX2_HUMAN	c.23G>C	p.G8A	non-syn	NA	-	-	lod=30:333	-	-	-	hom	1
4	M	7609	T	C	ENST00000361739	ENSG00000198712	7586	8269	ENSP00000354876	MT-CO2	1	COX2_HUMAN	c.24T>C	p.G8G	syn	NA	-	-	lod=30:333	-	-	-	hom	3
5	M	7624	T	A	ENST00000361739	ENSG00000198712	7586	8269	ENSP00000354876	MT-CO2	1	COX2_HUMAN	c.39T>A	p.T13T	syn	rs28358879	-	-	-	-	-	-	hom	1
6	M	7645	T	C	ENST00000361739	ENSG00000198712	7586	8269	ENSP00000354876	MT-CO2	1	COX2_HUMAN	c.60T>C	p.L20L	syn	NA	-	-	lod=78:435	-	-	-	hom	4
7	M	7648	C	T	ENST00000361739	ENSG00000198712	7586	8269	ENSP00000354876	MT-CO2	1	COX2_HUMAN	c.63C>T	p.I21I	syn	NA	-	-	-	-	-	-	hom	1
8	M	7657	T	C	ENST00000361739	ENSG00000198712	7586	8269	ENSP00000354876	MT-CO2	1	COX2_HUMAN	c.72T>C	p.H24H	syn	rs9701872	-	-	lod=18:278	-	-	-	hom	1
9	M	7660	T	C	ENST00000361739	ENSG00000198712	7586	8269	ENSP00000354876	MT-CO2	1	COX2_HUMAN	c.75T>C	p.D25D	syn	NA	-	-	lod=31:336	-	-	-	hom	1
10	M	7684	T	C	ENST00000361739	ENSG00000198712	7586	8269	ENSP00000354876	MT-CO2	1	COX2_HUMAN	c.99T>C	p.L33L	syn	NA	-	-	-	-	-	-	hom	1
11	M	7697	G	A	ENST00000361739	ENSG00000198712	7586	8269	ENSP00000354876	MT-CO2	1	COX2_HUMAN	c.112G>A	p.V38I	non-syn	NA	-	-	lod=23:304	-	-	-	hom	2
12	M	7762	G	A	ENST00000361739	ENSG00000198712	7586	8269	ENSP00000354876	MT-CO2	1	COX2_HUMAN	c.177G>A	p.Q59Q	syn	NA	-	-	lod=50:387	-	-	-	hom	4
13	M	7768	A	G	ENST00000361739	ENSG00000198712	7586	8269	ENSP00000354876	MT-CO2	1	COX2_HUMAN	c.183A>G	p.M61M	syn	rs112450444	-	-	lod=50:387	-	-	-	hom	14
14	M	7771	A	G	ENST00000361739	ENSG00000198712	7586	8269	ENSP00000354876	MT-CO2	1	COX2_HUMAN	c.186A>G	p.E62E	syn	rs9699599	-	-	lod=28:325	-	-	-	hom	8
15	M	7775	G	A	ENST00000361739	ENSG00000198712	7586	8269	ENSP00000354876	MT-CO2	1	COX2_HUMAN	c.190G>A	p.V64I	non-syn	NA	-	-	-	-	-	-	hom	2
16	M	7789	G	A	ENST00000361739	ENSG00000198712	7586	8269	ENSP00000354876	MT-CO2	1	COX2_HUMAN	c.204G>A	p.L68L	syn	NA	-	-	-	-	-	-	het	1
17	M	7789	G	A	ENST00000361739	ENSG00000198712	7586	8269	ENSP00000354876	MT-CO2	1	COX2_HUMAN	c.204G>A	p.L68L	syn	NA	-	-	-	-	-	-	hom	14
18	M	7795	C	T	ENST00000361739	ENSG00000198712	7586	8269	ENSP00000354876	MT-CO2	1	COX2_HUMAN	c.210C>T	p.A70A	syn	NA	-	-	lod=22:300	-	-	-	hom	1
19	M	7798	C	T	ENST00000361739	ENSG00000198712	7586	8269	ENSP00000354876	MT-CO2	1	COX2_HUMAN	c.213C>T	p.I71I	syn	NA	-	-	-	-	-	-	hom	1
20	M	7805	G	A	ENST00000361739	ENSG00000198712	7586	8269	ENSP00000354876	MT-CO2	1	COX2_HUMAN	c.220G>A	p.V74I	non-syn	NA	-	-	-	-	-	-	hom	5

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Transcripts and variants in the surrounding MT-CO2 M:7586..8269 region Gbrowse