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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 ENSG00000198804:

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
ENSG00000198804	MT-CO1	1	355	10	ENSG00000198804	ENST00000361624	ENSP00000354499	mitochondrially encoded cytochrome c oxidase I [Source:HGNC Symbol;Acc:7419]	M	5904	7445	1		5904	7445	MT-CO1	MT-CO1-201	HGNC Symbol	HGNC transcript name	1	46.24	protein_coding	protein_coding	insdc	insdc	KNOWN	KNOWN	4512	7419	MT-CO1		100965601

MSeqDR Master Exome Data Set M1: 135 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	5910	G	A	ENST00000361624	ENSG00000198804	5904	7445	ENSP00000354499	MT-CO1	1	COX1_HUMAN	c.7G>A	p.A3T	non-syn	NA	-	-	-	-	-	-	hom	1
2	M	5911	C	T	ENST00000361624	ENSG00000198804	5904	7445	ENSP00000354499	MT-CO1	1	COX1_HUMAN	c.8C>T	p.A3V	non-syn	NA	-	-	-	-	-	-	hom	4
3	M	5913	G	A	ENST00000361624	ENSG00000198804	5904	7445	ENSP00000354499	MT-CO1	1	COX1_HUMAN	c.10G>A	p.D4N	non-syn	NA	-	-	-	-	-	-	hom	4
4	M	5951	A	G	ENST00000361624	ENSG00000198804	5904	7445	ENSP00000354499	MT-CO1	1	COX1_HUMAN	c.48A>G	p.G16G	syn	rs7340122	-	-	lod=22:300	-	-	-	hom	2
5	M	5979	G	A	ENST00000361624	ENSG00000198804	5904	7445	ENSP00000354499	MT-CO1	1	COX1_HUMAN	c.76G>A	p.A26T	non-syn	NA	-	-	lod=41:366	-	-	-	hom	16
6	M	5981	T	C	ENST00000361624	ENSG00000198804	5904	7445	ENSP00000354499	MT-CO1	1	COX1_HUMAN	c.78T>C	p.A26A	syn	NA	-	-	lod=41:366	-	-	-	hom	2
7	M	5999	T	C	ENST00000361624	ENSG00000198804	5904	7445	ENSP00000354499	MT-CO1	1	COX1_HUMAN	c.96T>C	p.A32A	syn	NA	-	-	lod=15:259	-	-	-	hom	13
8	M	6002	A	G	ENST00000361624	ENSG00000198804	5904	7445	ENSP00000354499	MT-CO1	1	COX1_HUMAN	c.99A>G	p.L33L	syn	NA	-	-	-	-	-	-	hom	1
9	M	6023	G	A	ENST00000361624	ENSG00000198804	5904	7445	ENSP00000354499	MT-CO1	1	COX1_HUMAN	c.120G>A	p.E40E	syn	rs1856866	-	-	lod=20:289	-	-	-	het	2
10	M	6023	G	A	ENST00000361624	ENSG00000198804	5904	7445	ENSP00000354499	MT-CO1	1	COX1_HUMAN	c.120G>A	p.E40E	syn	rs1856866	-	-	lod=20:289	-	-	-	hom	1
11	M	6026	G	A	ENST00000361624	ENSG00000198804	5904	7445	ENSP00000354499	MT-CO1	1	COX1_HUMAN	c.123G>A	p.L41L	syn	rs41474553	-	-	-	-	-	-	hom	4
12	M	6032	G	A	ENST00000361624	ENSG00000198804	5904	7445	ENSP00000354499	MT-CO1	1	COX1_HUMAN	c.129G>A	p.Q43Q	syn	NA	-	-	lod=20:289	-	-	-	hom	1
13	M	6040	A	G	ENST00000361624	ENSG00000198804	5904	7445	ENSP00000354499	MT-CO1	1	COX1_HUMAN	c.137A>G	p.N46S	non-syn	NA	-	-	-	-	-	-	hom	1
14	M	6045	C	T	ENST00000361624	ENSG00000198804	5904	7445	ENSP00000354499	MT-CO1	1	COX1_HUMAN	c.142C>T	p.L48L	syn	rs41331648	-	-	-	-	-	-	hom	3
15	M	6047	A	G	ENST00000361624	ENSG00000198804	5904	7445	ENSP00000354499	MT-CO1	1	COX1_HUMAN	c.144A>G	p.L48L	syn	NA	-	-	-	-	-	-	hom	12
16	M	6050	T	C	ENST00000361624	ENSG00000198804	5904	7445	ENSP00000354499	MT-CO1	1	COX1_HUMAN	c.147T>C	p.G49G	syn	NA	-	-	lod=20:289	-	-	-	hom	2
17	M	6059	C	T	ENST00000361624	ENSG00000198804	5904	7445	ENSP00000354499	MT-CO1	1	COX1_HUMAN	c.156C>T	p.H52H	syn	NA	-	-	lod=41:366	-	-	-	hom	4
18	M	6107	C	T	ENST00000361624	ENSG00000198804	5904	7445	ENSP00000354499	MT-CO1	1	COX1_HUMAN	c.204C>T	p.F68F	syn	NA	-	-	lod=57:401	-	-	-	het	2
19	M	6125	A	G	ENST00000361624	ENSG00000198804	5904	7445	ENSP00000354499	MT-CO1	1	COX1_HUMAN	c.222A>G	p.M74M	syn	NA	-	-	lod=49:385	-	-	-	hom	1
20	M	6134	C	T	ENST00000361624	ENSG00000198804	5904	7445	ENSP00000354499	MT-CO1	1	COX1_HUMAN	c.231C>T	p.G77G	syn	NA	-	-	lod=22:300	-	-	-	hom	2

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Transcripts and variants in the surrounding MT-CO1 M:5904..7445 region Gbrowse