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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 ENSG00000210127:

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
ENSG00000210127	MT-TA	1	31	4	ENSG00000210127	ENST00000387392		mitochondrially encoded tRNA alanine [Source:HGNC Symbol;Acc:7475]	M	5587	5655	-1		5587	5655	MT-TA	MT-TA-201	HGNC Symbol	HGNC transcript name	1	43.48	Mt_tRNA	Mt_tRNA	insdc	insdc	KNOWN	KNOWN	4553	7475	MT-TA		100965601

MSeqDR Master Exome Data Set M1: 8 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	5587	T	C	ENST00000387392	ENSG00000210127	5587	5655	-	MT-TA	-1	-	c.69A>G	-	-	NA	-	-	lod=32:340	-	-	-	hom	1
2	M	5592	A	G	ENST00000387392	ENSG00000210127	5587	5655	-	MT-TA	-1	-	c.64T>C	-	-	NA	-	-	lod=32:340	-	-	-	hom	2
3	M	5601	C	T	ENST00000387392	ENSG00000210127	5587	5655	-	MT-TA	-1	-	c.55G>A	-	-	NA	-	-	-	-	-	-	hom	2
4	M	5603	C	T	ENST00000387392	ENSG00000210127	5587	5655	-	MT-TA	-1	-	c.53G>A	-	-	rs2854137	-	-	-	-	-	-	het	1
5	M	5603	C	T	ENST00000387392	ENSG00000210127	5587	5655	-	MT-TA	-1	-	c.53G>A	-	-	rs2854137	-	-	-	-	-	-	hom	8
6	M	5605	A	G	ENST00000387392	ENSG00000210127	5587	5655	-	MT-TA	-1	-	c.51T>C	-	-	NA	-	-	-	-	-	-	hom	1
7	M	5633	C	T	ENST00000387392	ENSG00000210127	5587	5655	-	MT-TA	-1	-	c.23G>A	-	-	NA	-	-	-	-	-	-	hom	5
8	M	5655	T	C	ENST00000387392	ENSG00000210127	5587	5655	-	MT-TA	-1	-	c.1A>G	-	-	rs9783068	-	-	lod=16:265	-	-	-	hom	4

** 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.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
**click here to view variant details for this gene in selected data set**,
and click "Export" button to save as csv.

Transcripts and variants in the surrounding MT-TA M:5587..5655 region Gbrowse