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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 ENSG00000119013:

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
ENSG00000119013	NDUFB3	1	5	2	ENSG00000119013	ENST00000450023	ENSP00000401834	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa [Source:HGNC Symbol;Acc:7698]	2	201936156	201950473	1	q33.1	201936156	201950236	NDUFB3	NDUFB3-002	HGNC Symbol	HGNC transcript name	4	41.49	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	4709	7698	NDUFB3		27508

MSeqDR Master Exome Data Set M1: 29 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	2	201943624	C	T	ENST00000237889	ENSG00000119013	201936156	201950473	ENSP00000237889	NDUFB3	1	NDUB3_HUMAN	c.19C>T	p.H7Y	non-syn	rs144513268	-	T=6/C=8594;T=0/C=4406;T=6/C=13000	lod=106:468	TOLERATED	NA	-	het	2
2	2	201943624	C	T	ENST00000433898	ENSG00000119013	201936156	201950473	ENSP00000410600	NDUFB3	1	NDUB3_HUMAN	c.19C>T	p.H7Y	non-syn	rs144513268	-	T=6/C=8594;T=0/C=4406;T=6/C=13000	lod=106:468	TOLERATED	NA	-	het	2
3	2	201943624	C	T	ENST00000450023	ENSG00000119013	201936156	201950473	ENSP00000401834	NDUFB3	1	-	c.19C>T	p.H7Y	non-syn	rs144513268	-	T=6/C=8594;T=0/C=4406;T=6/C=13000	lod=106:468	TOLERATED	NA	-	het	2
4	2	201943624	C	T	ENST00000454214	ENSG00000119013	201936156	201950473	ENSP00000407336	NDUFB3	1	NDUB3_HUMAN	c.19C>T	p.H7Y	non-syn	rs144513268	-	T=6/C=8594;T=0/C=4406;T=6/C=13000	lod=106:468	TOLERATED	NA	-	het	2
5	2	201943669	T	C	ENST00000237889	ENSG00000119013	201936156	201950473	ENSP00000237889	NDUFB3	1	NDUB3_HUMAN	c.64T>C	p.W22R	non-syn	rs142609245	0.0014	C=14/T=8586;C=2/T=4404;C=16/T=12990	lod=245:557	DAMAGING	D	-	het	2
6	2	201943669	T	C	ENST00000433898	ENSG00000119013	201936156	201950473	ENSP00000410600	NDUFB3	1	NDUB3_HUMAN	c.64T>C	p.W22R	non-syn	rs142609245	0.0014	C=14/T=8586;C=2/T=4404;C=16/T=12990	lod=245:557	DAMAGING	D	-	het	2
7	2	201943669	T	C	ENST00000450023	ENSG00000119013	201936156	201950473	ENSP00000401834	NDUFB3	1	-	c.64T>C	p.W22R	non-syn	rs142609245	0.0014	C=14/T=8586;C=2/T=4404;C=16/T=12990	lod=245:557	DAMAGING	D	-	het	2
8	2	201943669	T	C	ENST00000454214	ENSG00000119013	201936156	201950473	ENSP00000407336	NDUFB3	1	NDUB3_HUMAN	c.64T>C	p.W22R	non-syn	rs142609245	0.0014	C=14/T=8586;C=2/T=4404;C=16/T=12990	lod=245:557	DAMAGING	D	-	het	2
9	2	201950166	C	-T	ENST00000237889	ENSG00000119013	201936156	201950473	ENSP00000237889	NDUFB3	1	NDUB3_HUMAN	-	-	-15bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
10	2	201950166	C	+T	ENST00000237889	ENSG00000119013	201936156	201950473	ENSP00000237889	NDUFB3	1	NDUB3_HUMAN	-	-	-16bp 3'_splice_site	NA	-	-	-	-	-	-	het	29
11	2	201950166	C	-T	ENST00000433898	ENSG00000119013	201936156	201950473	ENSP00000410600	NDUFB3	1	NDUB3_HUMAN	-	-	-15bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
12	2	201950166	C	+T	ENST00000433898	ENSG00000119013	201936156	201950473	ENSP00000410600	NDUFB3	1	NDUB3_HUMAN	-	-	-16bp 3'_splice_site	NA	-	-	-	-	-	-	het	29
13	2	201950166	C	-T	ENST00000450023	ENSG00000119013	201936156	201950473	ENSP00000401834	NDUFB3	1	-	-	-	-15bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
14	2	201950166	C	+T	ENST00000450023	ENSG00000119013	201936156	201950473	ENSP00000401834	NDUFB3	1	-	-	-	-16bp 3'_splice_site	NA	-	-	-	-	-	-	het	29
15	2	201950166	C	-T	ENST00000454214	ENSG00000119013	201936156	201950473	ENSP00000407336	NDUFB3	1	NDUB3_HUMAN	-	-	-15bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
16	2	201950166	C	+T	ENST00000454214	ENSG00000119013	201936156	201950473	ENSP00000407336	NDUFB3	1	NDUB3_HUMAN	-	-	-16bp 3'_splice_site	NA	-	-	-	-	-	-	het	29
17	2	201950223	T	C	ENST00000237889	ENSG00000119013	201936156	201950473	ENSP00000237889	NDUFB3	1	NDUB3_HUMAN	c.182T>C	p.V61A	non-syn	rs139936993	0.00092	C=13/T=8587;C=0/T=4406;C=13/T=12993	-	TOLERATED	P	-	het	1
18	2	201950223	T	C	ENST00000433898	ENSG00000119013	201936156	201950473	ENSP00000410600	NDUFB3	1	NDUB3_HUMAN	c.182T>C	p.V61A	non-syn	rs139936993	0.00092	C=13/T=8587;C=0/T=4406;C=13/T=12993	-	TOLERATED	P	-	het	1
19	2	201950223	T	C	ENST00000450023	ENSG00000119013	201936156	201950473	ENSP00000401834	NDUFB3	1	-	c.182T>C	p.V61A	non-syn	rs139936993	0.00092	C=13/T=8587;C=0/T=4406;C=13/T=12993	-	TOLERATED	P	-	het	1
20	2	201950223	T	C	ENST00000454214	ENSG00000119013	201936156	201950473	ENSP00000407336	NDUFB3	1	NDUB3_HUMAN	c.182T>C	p.V61A	non-syn	rs139936993	0.00092	C=13/T=8587;C=0/T=4406;C=13/T=12993	-	TOLERATED	P	-	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 NDUFB3 2:201936156..201950473 region Gbrowse