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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 ENSG00000213619:

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
ENSG00000213619	NDUFS3	1	34	10	ENSG00000213619	ENST00000533507		NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) [Source:HGNC Symbol;Acc:7710]	11	47586888	47606114	1	p11.2	47586888	47606113	NDUFS3	NDUFS3-003	HGNC Symbol	HGNC transcript name	13	48.67	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	4722	7710	NDUFS3		27504

MSeqDR Master Exome Data Set M1: 90 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	11	47586968	A	G	ENST00000533507	ENSG00000213619	47586888	47606114	-	NDUFS3	1	-	c.81A>G	p.E27E	syn	rs7933674	0.9984	-	-	-	-	-	hom	610
2	11	47586968	A	G	ENST00000533507	ENSG00000213619	47586888	47606114	-	NDUFS3	1	-	c.81A>G	p.E27E	syn	rs7933674	0.9984	-	-	-	-	-	het	1
3	11	47587057	T	G	ENST00000533507	ENSG00000213619	47586888	47606114	-	NDUFS3	1	-	c.170T>G	p.V57G	non-syn	rs183171144	0.0055	-	-	-	-	-	het	4
4	11	47587062	G	A	ENST00000533507	ENSG00000213619	47586888	47606114	-	NDUFS3	1	-	c.175G>A	p.A59T	non-syn	rs11039300	0.8668	-	-	-	-	-	het	154
5	11	47587062	G	A	ENST00000533507	ENSG00000213619	47586888	47606114	-	NDUFS3	1	-	c.175G>A	p.A59T	non-syn	rs11039300	0.8668	-	-	-	-	-	hom	470
6	11	47587062	G	C	ENST00000533507	ENSG00000213619	47586888	47606114	-	NDUFS3	1	-	c.175G>C	p.A59P	non-syn	NA	-	-	-	-	-	-	het	3
7	11	47587147	C	T	ENST00000533507	ENSG00000213619	47586888	47606114	-	NDUFS3	1	-	c.260C>T	p.P87L	non-syn	rs188981991	0.0343	-	-	-	-	-	het	4
8	11	47587171	C	G	ENST00000533507	ENSG00000213619	47586888	47606114	-	NDUFS3	1	-	c.284C>G	p.P95R	non-syn	NA	-	-	-	-	-	-	het	3
9	11	47587243	C	G	ENST00000533507	ENSG00000213619	47586888	47606114	-	NDUFS3	1	-	c.356C>G	p.P119R	non-syn	rs143766862	0.0173	G=18/C=7194;G=134/C=3000;G=152/C=10194	-	-	-	-	het	17
10	11	47587452	C	T	ENST00000533507	ENSG00000213619	47586888	47606114	-	NDUFS3	1	-	-	-	-6bp 3'_splice_site	rs11537751	0.0543	T=411/C=7973;T=39/C=4061;T=450/C=12034	lod=74:429	DAMAGING	-	-	het	94
11	11	47587452	C	T	ENST00000533507	ENSG00000213619	47586888	47606114	-	NDUFS3	1	-	-	-	-6bp 3'_splice_site	rs11537751	0.0543	T=411/C=7973;T=39/C=4061;T=450/C=12034	lod=74:429	DAMAGING	-	-	hom	3
12	11	47587505	G	C	ENST00000533507	ENSG00000213619	47586888	47606114	-	NDUFS3	1	-	c.509G>C	p.S170T	non-syn	NA	-	-	lod=238:554	TOLERATED	P	-	het	2
13	11	47587548	C	G	ENST00000533507	ENSG00000213619	47586888	47606114	-	NDUFS3	1	-	-	-	+10bp 5'_splice_site	rs78911074	0.1127	G=6/C=8256;G=521/C=3395;G=527/C=11651	-	-	-	-	het	11
14	11	47593061	C	T	ENST00000533507	ENSG00000213619	47586888	47606114	-	NDUFS3	1	-	c.581C>T	p.S194L	non-syn	rs61740549	0.0158	T=1/C=8287;T=50/C=3806;T=51/C=12093	lod=129:489	DAMAGING	-	-	het	2
15	11	47593180	G	C	ENST00000533507	ENSG00000213619	47586888	47606114	-	NDUFS3	1	-	c.700G>C	p.D234H	non-syn	rs190036505	-	C=35/G=8199;C=4/G=3740;C=39/G=11939	-	TOLERATED	NA	-	het	5
16	11	47600620	C	-T	ENST00000263774	ENSG00000213619	47586888	47606114	ENSP00000263774	NDUFS3	1	NDUS3_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
17	11	47600620	C	-T	ENST00000528192	ENSG00000213619	47586888	47606114	ENSP00000432099	NDUFS3	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
18	11	47600620	C	-T	ENST00000529276	ENSG00000213619	47586888	47606114	ENSP00000433753	NDUFS3	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
19	11	47600756	T	C	ENST00000524568	ENSG00000213619	47586888	47606114	-	NDUFS3	1	-	c.106T>C	p.C36R	non-syn	rs2233349	-	-	-	-	-	-	het	1
20	11	47600756	T	C	ENST00000533105	ENSG00000213619	47586888	47606114	-	NDUFS3	1	-	c.120T>C	p.R40R	syn	rs2233349	-	-	-	-	-	-	het	1

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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding NDUFS3 11:47586888..47606114 region Gbrowse