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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 ENSG00000113845:

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
ENSG00000113845	TIMMDC1	1	16	0	ENSG00000113845	ENST00000494664	ENSP00000418803	translocase of inner mitochondrial membrane domain containing 1 [Source:HGNC Symbol;Acc:1321]	3	119217379	119243937	1	q13.33	119217379	119243937	TIMMDC1	TIMMDC1-001	HGNC Symbol	HGNC transcript name	9	38.48	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	51300	1321	TIMMDC1	NM_016589	27517

MSeqDR Master Exome Data Set M1: 179 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	119217440	G	T	ENST00000264244	ENSG00000113845	119217379	119243937	ENSP00000264244	TIMMDC1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
2	3	119217440	G	T	ENST00000463927	ENSG00000113845	119217379	119243937	ENSP00000417205	TIMMDC1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
3	3	119217440	G	T	ENST00000466984	ENSG00000113845	119217379	119243937	ENSP00000420122	TIMMDC1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
4	3	119217440	G	T	ENST00000486418	ENSG00000113845	119217379	119243937	ENSP00000417083	TIMMDC1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
5	3	119217440	G	T	ENST00000492164	ENSG00000113845	119217379	119243937	ENSP00000418846	TIMMDC1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
6	3	119217440	G	T	ENST00000493694	ENSG00000113845	119217379	119243937	ENSP00000419510	TIMMDC1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
7	3	119217440	G	T	ENST00000494664	ENSG00000113845	119217379	119243937	ENSP00000418803	TIMMDC1	1	TIDC1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
8	3	119217449	G	A	ENST00000264244	ENSG00000113845	119217379	119243937	ENSP00000264244	TIMMDC1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
9	3	119217449	G	A	ENST00000463927	ENSG00000113845	119217379	119243937	ENSP00000417205	TIMMDC1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
10	3	119217449	G	A	ENST00000466984	ENSG00000113845	119217379	119243937	ENSP00000420122	TIMMDC1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
11	3	119217449	G	A	ENST00000486418	ENSG00000113845	119217379	119243937	ENSP00000417083	TIMMDC1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
12	3	119217449	G	A	ENST00000492164	ENSG00000113845	119217379	119243937	ENSP00000418846	TIMMDC1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
13	3	119217449	G	A	ENST00000493694	ENSG00000113845	119217379	119243937	ENSP00000419510	TIMMDC1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
14	3	119217449	G	A	ENST00000494664	ENSG00000113845	119217379	119243937	ENSP00000418803	TIMMDC1	1	TIDC1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
15	3	119217496	T	A	ENST00000264244	ENSG00000113845	119217379	119243937	ENSP00000264244	TIMMDC1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
16	3	119217496	T	A	ENST00000463927	ENSG00000113845	119217379	119243937	ENSP00000417205	TIMMDC1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
17	3	119217496	T	A	ENST00000466984	ENSG00000113845	119217379	119243937	ENSP00000420122	TIMMDC1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
18	3	119217496	T	A	ENST00000486418	ENSG00000113845	119217379	119243937	ENSP00000417083	TIMMDC1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
19	3	119217496	T	A	ENST00000492164	ENSG00000113845	119217379	119243937	ENSP00000418846	TIMMDC1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
20	3	119217496	T	A	ENST00000493694	ENSG00000113845	119217379	119243937	ENSP00000419510	TIMMDC1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding TIMMDC1 3:119217379..119243937 region Gbrowse