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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 UQCC2:

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
ENSG00000137288	UQCC2	0	6	1	ENSG00000137288	ENST00000606961		ubiquinol-cytochrome c reductase complex assembly factor 2 [Source:HGNC Symbol;Acc:21237]	6	33662070	33679504	-1	p21.31	33662070	33666434	UQCC2	UQCC2-003	HGNC Symbol	HGNC transcript name	4	49.22	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	100500873	21237	UQCC2		27515

MSeqDR Master Exome Data Set M1: 14 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	6	33665440	T	C	ENST00000374214	ENSG00000137288	33662070	33679504	ENSP00000363331	MNF1	-1	-	c.296A>G	p.H99R	non-syn	NA	-	-	lod=30:333	TOLERATED	P	-	het	1
2	6	33665440	T	C	ENST00000374231	ENSG00000137288	33662070	33679504	ENSP00000363348	MNF1	-1	MNF1_HUMAN	c.371A>G	p.H124R	non-syn	NA	-	-	lod=30:333	TOLERATED	P	-	het	1
3	6	33665458	T	C	ENST00000374214	ENSG00000137288	33662070	33679504	ENSP00000363331	MNF1	-1	-	c.278A>G	p.K93R	non-syn	rs34628420	0.0214	C=0/T=8600;C=4/T=4402;C=4/T=13002	-	TOLERATED	B	-	het	8
4	6	33665458	T	C	ENST00000374231	ENSG00000137288	33662070	33679504	ENSP00000363348	MNF1	-1	MNF1_HUMAN	c.353A>G	p.K118R	non-syn	rs34628420	0.0214	C=0/T=8600;C=4/T=4402;C=4/T=13002	-	TOLERATED	B	-	het	8
5	6	33665490	C	T	ENST00000374214	ENSG00000137288	33662070	33679504	ENSP00000363331	MNF1	-1	-	c.246G>A	p.M82I	non-syn	rs34770331	0.0028	T=1/C=8599;T=33/C=4373;T=34/C=12972	-	TOLERATED	P	-	het	1
6	6	33665490	C	T	ENST00000374231	ENSG00000137288	33662070	33679504	ENSP00000363348	MNF1	-1	MNF1_HUMAN	c.321G>A	p.M107I	non-syn	rs34770331	0.0028	T=1/C=8599;T=33/C=4373;T=34/C=12972	-	TOLERATED	P	-	het	1
7	6	33668306	G	C	ENST00000374214	ENSG00000137288	33662070	33679504	ENSP00000363331	MNF1	-1	-	-	-	-16bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
8	6	33668306	G	C	ENST00000374231	ENSG00000137288	33662070	33679504	ENSP00000363348	MNF1	-1	MNF1_HUMAN	-	-	-16bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
9	6	33679341	C	T	ENST00000374214	ENSG00000137288	33662070	33679504	ENSP00000363331	MNF1	-1	-	c.123G>A	p.E41E	syn	rs10025	0.0094	T=1/C=8599;T=121/C=4285;T=122/C=12884	lod=539:641	-	-	-	het	3
10	6	33679341	C	T	ENST00000374231	ENSG00000137288	33662070	33679504	ENSP00000363348	MNF1	-1	MNF1_HUMAN	c.123G>A	p.E41E	syn	rs10025	0.0094	T=1/C=8599;T=121/C=4285;T=122/C=12884	lod=539:641	-	-	-	het	3
11	6	33679389	C	G	ENST00000374214	ENSG00000137288	33662070	33679504	ENSP00000363331	MNF1	-1	-	c.75G>C	p.R25R	syn	rs200426793	-	G=3/C=8597;G=0/C=4406;G=3/C=13003	lod=539:641	-	-	-	het	1
12	6	33679389	C	G	ENST00000374231	ENSG00000137288	33662070	33679504	ENSP00000363348	MNF1	-1	MNF1_HUMAN	c.75G>C	p.R25R	syn	rs200426793	-	G=3/C=8597;G=0/C=4406;G=3/C=13003	lod=539:641	-	-	-	het	1
13	6	33679465	T	G	ENST00000374214	ENSG00000137288	33662070	33679504	ENSP00000363331	MNF1	-1	-	-	-	5'_UTR	NA	-	-	lod=22:300	-	-	-	het	3
14	6	33679465	T	G	ENST00000374231	ENSG00000137288	33662070	33679504	ENSP00000363348	MNF1	-1	MNF1_HUMAN	-	-	5'_UTR	NA	-	-	lod=22:300	-	-	-	het	3

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Transcripts and variants in the surrounding MNF1 6:33662070..33679504 region Gbrowse