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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 TOR1A:

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
ENSG00000136827	TOR1A	0	0	6	ENSG00000136827	ENST00000351698	ENSP00000345719	torsin family 1, member A (torsin A) [Source:HGNC Symbol;Acc:3098]	9	132575223	132586413	-1	q34.11	132575223	132586413	TOR1A	TOR1A-001	HGNC Symbol	HGNC transcript name	4	52.06	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1861	3098	TOR1A	NM_000113	27518

MSeqDR Master Exome Data Set M1: 61 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	9	132575249	G	A	ENST00000351698	ENSG00000136827	132575223	132586413	ENSP00000345719	TOR1A	-1	TOR1A_HUMAN	-	-	3'_UTR	rs144267898	0.0057	-	-	-	-	-	het	2
2	9	132575254	C	T	ENST00000351698	ENSG00000136827	132575223	132586413	ENSP00000345719	TOR1A	-1	TOR1A_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
3	9	132575290	A	T	ENST00000351698	ENSG00000136827	132575223	132586413	ENSP00000345719	TOR1A	-1	TOR1A_HUMAN	-	-	3'_UTR	rs79201718	0.1125	-	-	-	-	-	het	4
4	9	132575327	C	T	ENST00000351698	ENSG00000136827	132575223	132586413	ENSP00000345719	TOR1A	-1	TOR1A_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
5	9	132575350	A	-AAT	ENST00000351698	ENSG00000136827	132575223	132586413	ENSP00000345719	TOR1A	-1	TOR1A_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
6	9	132575420	G	A	ENST00000351698	ENSG00000136827	132575223	132586413	ENSP00000345719	TOR1A	-1	TOR1A_HUMAN	-	-	3'_UTR	rs77889648	0.1172	-	-	-	-	-	het	6
7	9	132575426	G	-C	ENST00000351698	ENSG00000136827	132575223	132586413	ENSP00000345719	TOR1A	-1	TOR1A_HUMAN	-	-	3'_UTR	rs3842225	-	-	-	-	-	-	het	193
8	9	132575426	G	-C	ENST00000351698	ENSG00000136827	132575223	132586413	ENSP00000345719	TOR1A	-1	TOR1A_HUMAN	-	-	3'_UTR	rs3842225	-	-	-	-	-	-	hom	30
9	9	132575578	T	+G	ENST00000351698	ENSG00000136827	132575223	132586413	ENSP00000345719	TOR1A	-1	TOR1A_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
10	9	132575797	A	T	ENST00000351698	ENSG00000136827	132575223	132586413	ENSP00000345719	TOR1A	-1	TOR1A_HUMAN	-	-	3'_UTR	rs1045441	0.07601	-	-	-	-	-	hom	13
11	9	132575797	A	T	ENST00000351698	ENSG00000136827	132575223	132586413	ENSP00000345719	TOR1A	-1	TOR1A_HUMAN	-	-	3'_UTR	rs1045441	0.07601	-	-	-	-	-	het	137
12	9	132575827	T	-A	ENST00000351698	ENSG00000136827	132575223	132586413	ENSP00000345719	TOR1A	-1	TOR1A_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	16
13	9	132575835	A	-ACAC	ENST00000351698	ENSG00000136827	132575223	132586413	ENSP00000345719	TOR1A	-1	TOR1A_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	5
14	9	132575835	A	C	ENST00000351698	ENSG00000136827	132575223	132586413	ENSP00000345719	TOR1A	-1	TOR1A_HUMAN	-	-	3'_UTR	rs186581792	0.02323	-	-	-	-	-	het	19
15	9	132575836	A	-C	ENST00000351698	ENSG00000136827	132575223	132586413	ENSP00000345719	TOR1A	-1	TOR1A_HUMAN	-	-	3'_UTR	rs35153737	-	-	-	-	-	-	het	125
16	9	132575836	A	-C	ENST00000351698	ENSG00000136827	132575223	132586413	ENSP00000345719	TOR1A	-1	TOR1A_HUMAN	-	-	3'_UTR	rs35153737	-	-	-	-	-	-	hom	9
17	9	132575837	C	A	ENST00000351698	ENSG00000136827	132575223	132586413	ENSP00000345719	TOR1A	-1	TOR1A_HUMAN	-	-	3'_UTR	rs199964594	-	-	-	-	-	-	hom	5
18	9	132575837	C	A	ENST00000351698	ENSG00000136827	132575223	132586413	ENSP00000345719	TOR1A	-1	TOR1A_HUMAN	-	-	3'_UTR	rs199964594	-	-	-	-	-	-	het	5
19	9	132575988	T	C	ENST00000351698	ENSG00000136827	132575223	132586413	ENSP00000345719	TOR1A	-1	TOR1A_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
20	9	132575988	T	C	ENST00000474192	ENSG00000136827	132575223	132586413	-	TOR1A	-1	-	c.846A>G	p.S282S	syn	NA	-	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding TOR1A 9:132575223..132586413 region Gbrowse