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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 UQCRQ:

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
ENSG00000164405	UQCRQ	1	21	7	ENSG00000164405	ENST00000378670	ENSP00000367939	ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa [Source:HGNC Symbol;Acc:29594]	5	132202252	132203723	1	q31.1	132202252	132203723	UQCRQ	UQCRQ-001	HGNC Symbol	HGNC transcript name	6	51.29	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	27089	29594	UQCRQ	NM_014402	27527

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	5	132202261	A	G	ENST00000378670	ENSG00000164405	132202252	132203723	ENSP00000367939	UQCRQ	1	QCR8_HUMAN	-	-	5'_UTR	rs60321536	0.0928	-	-	-	-	-	het	14
2	5	132202309	G	C	ENST00000378670	ENSG00000164405	132202252	132203723	ENSP00000367939	UQCRQ	1	QCR8_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
3	5	132202351	C	T	ENST00000378665	ENSG00000164405	132202252	132203723	ENSP00000367934	UQCRQ	1	QCR8_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
4	5	132202351	C	T	ENST00000378667	ENSG00000164405	132202252	132203723	ENSP00000367936	UQCRQ	1	QCR8_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
5	5	132202351	C	T	ENST00000378670	ENSG00000164405	132202252	132203723	ENSP00000367939	UQCRQ	1	QCR8_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
6	5	132202351	C	T	ENST00000480372	ENSG00000164405	132202252	132203723	-	UQCRQ	1	-	c.3C>T	p.I1I	syn	NA	-	-	-	-	-	-	het	2
7	5	132202351	C	T	ENST00000496429	ENSG00000164405	132202252	132203723	-	UQCRQ	1	-	c.18C>T	p.I6I	syn	NA	-	-	-	-	-	-	het	2
8	5	132202351	C	T	ENST00000498309	ENSG00000164405	132202252	132203723	-	UQCRQ	1	-	c.27C>T	p.I9I	syn	NA	-	-	-	-	-	-	het	2
9	5	132202377	C	T	ENST00000378665	ENSG00000164405	132202252	132203723	ENSP00000367934	UQCRQ	1	QCR8_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
10	5	132202377	C	T	ENST00000378667	ENSG00000164405	132202252	132203723	ENSP00000367936	UQCRQ	1	QCR8_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
11	5	132202377	C	T	ENST00000378670	ENSG00000164405	132202252	132203723	ENSP00000367939	UQCRQ	1	QCR8_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
12	5	132202377	C	T	ENST00000480372	ENSG00000164405	132202252	132203723	-	UQCRQ	1	-	c.29C>T	p.P10L	non-syn	NA	-	-	-	-	-	-	het	2
13	5	132202377	C	T	ENST00000496429	ENSG00000164405	132202252	132203723	-	UQCRQ	1	-	c.44C>T	p.P15L	non-syn	NA	-	-	-	-	-	-	het	2
14	5	132202377	C	T	ENST00000498309	ENSG00000164405	132202252	132203723	-	UQCRQ	1	-	c.53C>T	p.P18L	non-syn	NA	-	-	-	-	-	-	het	2
15	5	132202399	T	C	ENST00000378665	ENSG00000164405	132202252	132203723	ENSP00000367934	UQCRQ	1	QCR8_HUMAN	-	-	5'_UTR	rs30178	0.6835	-	-	-	-	-	het	248
16	5	132202399	T	C	ENST00000378665	ENSG00000164405	132202252	132203723	ENSP00000367934	UQCRQ	1	QCR8_HUMAN	-	-	5'_UTR	rs30178	0.6835	-	-	-	-	-	hom	388
17	5	132202399	T	C	ENST00000378667	ENSG00000164405	132202252	132203723	ENSP00000367936	UQCRQ	1	QCR8_HUMAN	-	-	+16bp 5'_splice_site	rs30178	0.6835	-	-	-	-	-	het	248
18	5	132202399	T	C	ENST00000378667	ENSG00000164405	132202252	132203723	ENSP00000367936	UQCRQ	1	QCR8_HUMAN	-	-	+16bp 5'_splice_site	rs30178	0.6835	-	-	-	-	-	hom	388
19	5	132202399	T	C	ENST00000378670	ENSG00000164405	132202252	132203723	ENSP00000367939	UQCRQ	1	QCR8_HUMAN	-	-	+20bp 5'_splice_site	rs30178	0.6835	-	-	-	-	-	het	248
20	5	132202399	T	C	ENST00000378670	ENSG00000164405	132202252	132203723	ENSP00000367939	UQCRQ	1	QCR8_HUMAN	-	-	+20bp 5'_splice_site	rs30178	0.6835	-	-	-	-	-	hom	388

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Transcripts and variants in the surrounding UQCRQ 5:132202252..132203723 region Gbrowse