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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 TNNC1:

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
ENSG00000114854	TNNC1	1	1	44	ENSG00000114854	ENST00000232975	ENSP00000232975	troponin C type 1 (slow) [Source:HGNC Symbol;Acc:11943]	3	52485118	52488086	-1	p21.1	52485118	52488086	TNNC1	TNNC1-001	HGNC Symbol	HGNC transcript name	3	59.58	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	7134	11943	TNNC1	NM_003280	27517

MSeqDR Master Exome Data Set M1: 10 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	3	52485208	T	G	ENST00000232975	ENSG00000114854	52485118	52488086	ENSP00000232975	TNNC1	-1	TNNC1_HUMAN	-	-	3'_UTR	rs115688995	0.0189	G=5/T=3177;G=53/T=1331;G=58/T=4508	-	-	-	-	het	4
2	3	52485416	C	A	ENST00000232975	ENSG00000114854	52485118	52488086	ENSP00000232975	TNNC1	-1	TNNC1_HUMAN	c.445G>T	p.D149Y	non-syn	NA	-	-	lod=234:552	DAMAGING	D	-	het	1
3	3	52485444	G	A	ENST00000232975	ENSG00000114854	52485118	52488086	ENSP00000232975	TNNC1	-1	TNNC1_HUMAN	c.417C>T	p.D139D	syn	rs150623929	-	-	lod=199:535	-	-	-	het	1
4	3	52485444	G	A	ENST00000496590	ENSG00000114854	52485118	52488086	ENSP00000420596	TNNC1	-1	-	c.285C>T	p.D95D	syn	rs150623929	-	-	lod=199:535	-	-	-	het	1
5	3	52485867	G	A	ENST00000232975	ENSG00000114854	52485118	52488086	ENSP00000232975	TNNC1	-1	TNNC1_HUMAN	c.210C>T	p.G70G	syn	rs141505676	-	A=2/G=8598;A=0/G=4406;A=2/G=13004	lod=417:614	-	-	-	het	1
6	3	52485867	G	A	ENST00000461086	ENSG00000114854	52485118	52488086	-	TNNC1	-1	-	c.141C>T	p.G47G	syn	rs141505676	-	A=2/G=8598;A=0/G=4406;A=2/G=13004	lod=417:614	-	-	-	het	1
7	3	52485867	G	A	ENST00000496590	ENSG00000114854	52485118	52488086	ENSP00000420596	TNNC1	-1	-	c.78C>T	p.G26G	syn	rs141505676	-	A=2/G=8598;A=0/G=4406;A=2/G=13004	lod=417:614	-	-	-	het	1
8	3	52486681	A	G	ENST00000496590	ENSG00000114854	52485118	52488086	ENSP00000420596	TNNC1	-1	-	-	-	5'_UTR	rs141880897	-	-	-	-	-	-	het	6
9	3	52486681	A	G	ENST00000496590	ENSG00000114854	52485118	52488086	ENSP00000420596	TNNC1	-1	-	-	-	5'_UTR	rs141880897	-	-	-	-	-	-	hom	1
10	3	52486792	C	T	ENST00000496590	ENSG00000114854	52485118	52488086	ENSP00000420596	TNNC1	-1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	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 TNNC1 3:52485118..52488086 region Gbrowse