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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 NDUFS2:

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
ENSG00000158864	NDUFS2	1	69	28	ENSG00000158864	ENST00000479948		NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) [Source:HGNC Symbol;Acc:7708]	1	161166894	161184185	1	q23.3	161166894	161176383	NDUFS2	NDUFS2-002	HGNC Symbol	HGNC transcript name	16	49.73	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	4720	7708	NDUFS2		27511

MSeqDR Master Exome Data Set M1: 245 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	1	161171895	T	C	ENST00000496553	ENSG00000158864	161166894	161184185	-	NDUFS2	1	-	c.60T>C	p.S20S	syn	NA	-	-	-	-	-	-	het	1
2	1	161171953	C	G	ENST00000367993	ENSG00000158864	161166894	161184185	ENSP00000356972	NDUFS2	1	NDUS2_HUMAN	-	-	5'_UTR	rs74124661	0.0176	-	-	-	-	-	het	1
3	1	161171953	C	G	ENST00000392179	ENSG00000158864	161166894	161184185	ENSP00000376018	NDUFS2	1	NDUS2_HUMAN	-	-	5'_UTR	rs74124661	0.0176	-	-	-	-	-	het	1
4	1	161171953	C	G	ENST00000479948	ENSG00000158864	161166894	161184185	-	NDUFS2	1	-	c.70C>G	p.L24V	non-syn	rs74124661	0.0176	-	-	-	-	-	het	1
5	1	161171953	C	G	ENST00000496133	ENSG00000158864	161166894	161184185	-	NDUFS2	1	-	c.86C>G	p.A29G	non-syn	rs74124661	0.0176	-	-	-	-	-	het	1
6	1	161171953	C	G	ENST00000496553	ENSG00000158864	161166894	161184185	-	NDUFS2	1	-	c.118C>G	p.L40V	non-syn	rs74124661	0.0176	-	-	-	-	-	het	1
7	1	161171958	G	A	ENST00000367993	ENSG00000158864	161166894	161184185	ENSP00000356972	NDUFS2	1	NDUS2_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
8	1	161171958	G	A	ENST00000392179	ENSG00000158864	161166894	161184185	ENSP00000376018	NDUFS2	1	NDUS2_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
9	1	161171958	G	A	ENST00000479948	ENSG00000158864	161166894	161184185	-	NDUFS2	1	-	c.75G>A	p.W25*	non-syn	NA	-	-	-	-	-	-	het	1
10	1	161171958	G	A	ENST00000496133	ENSG00000158864	161166894	161184185	-	NDUFS2	1	-	c.91G>A	p.G31R	non-syn	NA	-	-	-	-	-	-	het	1
11	1	161171958	G	A	ENST00000496553	ENSG00000158864	161166894	161184185	-	NDUFS2	1	-	c.123G>A	p.W41*	non-syn	NA	-	-	-	-	-	-	het	1
12	1	161172156	C	T	ENST00000367993	ENSG00000158864	161166894	161184185	ENSP00000356972	NDUFS2	1	NDUS2_HUMAN	-	-	5'_UTR	rs201554004	-	T=26/C=8572;T=1/C=4403;T=27/C=12975	-	-	-	-	het	2
13	1	161172156	C	T	ENST00000392179	ENSG00000158864	161166894	161184185	ENSP00000376018	NDUFS2	1	NDUS2_HUMAN	-	-	5'_UTR	rs201554004	-	T=26/C=8572;T=1/C=4403;T=27/C=12975	-	-	-	-	het	2
14	1	161172156	C	T	ENST00000467295	ENSG00000158864	161166894	161184185	-	NDUFS2	1	-	c.18C>T	p.R6R	syn	rs201554004	-	T=26/C=8572;T=1/C=4403;T=27/C=12975	-	-	-	-	het	2
15	1	161172156	C	T	ENST00000479948	ENSG00000158864	161166894	161184185	-	NDUFS2	1	-	c.273C>T	p.R91R	syn	rs201554004	-	T=26/C=8572;T=1/C=4403;T=27/C=12975	-	-	-	-	het	2
16	1	161172156	C	T	ENST00000496133	ENSG00000158864	161166894	161184185	-	NDUFS2	1	-	c.289C>T	p.Q97*	non-syn	rs201554004	-	T=26/C=8572;T=1/C=4403;T=27/C=12975	-	-	-	-	het	2
17	1	161172156	C	T	ENST00000496553	ENSG00000158864	161166894	161184185	-	NDUFS2	1	-	c.321C>T	p.R107R	syn	rs201554004	-	T=26/C=8572;T=1/C=4403;T=27/C=12975	-	-	-	-	het	2
18	1	161172233	C	A	ENST00000367993	ENSG00000158864	161166894	161184185	ENSP00000356972	NDUFS2	1	NDUS2_HUMAN	c.58C>A	p.P20T	non-syn	rs11538340	0.0718	A=681/C=7917;A=282/C=4122;A=963/C=12039	lod=16:265	DAMAGING	B	-	het	134
19	1	161172233	C	A	ENST00000367993	ENSG00000158864	161166894	161184185	ENSP00000356972	NDUFS2	1	NDUS2_HUMAN	c.58C>A	p.P20T	non-syn	rs11538340	0.0718	A=681/C=7917;A=282/C=4122;A=963/C=12039	lod=16:265	DAMAGING	B	-	hom	4
20	1	161172233	C	A	ENST00000392179	ENSG00000158864	161166894	161184185	ENSP00000376018	NDUFS2	1	NDUS2_HUMAN	c.58C>A	p.P20T	non-syn	rs11538340	0.0718	A=681/C=7917;A=282/C=4122;A=963/C=12039	lod=16:265	DAMAGING	B	-	het	134

** 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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Transcripts and variants in the surrounding NDUFS2 1:161166894..161184185 region Gbrowse