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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 ENSG00000110717:

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
ENSG00000110717	NDUFS8	1	52	15	ENSG00000110717	ENST00000529645	ENSP00000431293	NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) [Source:HGNC Symbol;Acc:7715]	11	67798084	67804111	1	q13.2	67799628	67803150	NDUFS8	NDUFS8-009	HGNC Symbol	HGNC transcript name	15	57.63	protein_coding	nonsense_mediated_decay	ensembl_hava	havana	KNOWN	KNOWN	100616403	7715	NDUFS8		27504

MSeqDR Master Exome Data Set M1: 173 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	67798237	G	C	ENST00000525419	ENSG00000110717	67798084	67804111	ENSP00000433521	NDUFS8	1	-	-	-	5'_UTR	rs188250918	0.0045	-	-	-	-	-	het	1
2	11	67798237	G	C	ENST00000526339	ENSG00000110717	67798084	67804111	ENSP00000436287	NDUFS8	1	-	-	-	5'_UTR	rs188250918	0.0045	-	-	-	-	-	het	1
3	11	67798237	G	C	ENST00000531228	ENSG00000110717	67798084	67804111	ENSP00000433054	NDUFS8	1	-	-	-	5'_UTR	rs188250918	0.0045	-	-	-	-	-	het	1
4	11	67798299	G	A	ENST00000525419	ENSG00000110717	67798084	67804111	ENSP00000433521	NDUFS8	1	-	-	-	5'_UTR	rs146345841	0.0226	-	-	-	-	-	het	3
5	11	67798299	G	A	ENST00000526339	ENSG00000110717	67798084	67804111	ENSP00000436287	NDUFS8	1	-	-	-	5'_UTR	rs146345841	0.0226	-	-	-	-	-	het	3
6	11	67798299	G	A	ENST00000531228	ENSG00000110717	67798084	67804111	ENSP00000433054	NDUFS8	1	-	-	-	5'_UTR	rs146345841	0.0226	-	-	-	-	-	het	3
7	11	67798356	A	+GCCGGCCCTCAGGGC	ENST00000525419	ENSG00000110717	67798084	67804111	ENSP00000433521	NDUFS8	1	-	-	-	5'_UTR	rs11276215	-	-	-	-	-	-	het	3
8	11	67798356	A	+GCCGGCCCTCAGGGC	ENST00000526339	ENSG00000110717	67798084	67804111	ENSP00000436287	NDUFS8	1	-	-	-	+12bp 5'_splice_site	rs11276215	-	-	-	-	-	-	het	3
9	11	67798356	A	+GCCGGCCCTCAGGGC	ENST00000531228	ENSG00000110717	67798084	67804111	ENSP00000433054	NDUFS8	1	-	-	-	5'_UTR	rs11276215	-	-	-	-	-	-	het	3
10	11	67798363	T	+CAGGGCGCCGGCC	ENST00000525419	ENSG00000110717	67798084	67804111	ENSP00000433521	NDUFS8	1	-	-	-	5'_UTR	rs200951888	-	-	-	-	-	-	het	15
11	11	67798363	T	+CAGGGCGCCGGCC	ENST00000526339	ENSG00000110717	67798084	67804111	ENSP00000436287	NDUFS8	1	-	-	-	+19bp 5'_splice_site	rs200951888	-	-	-	-	-	-	het	15
12	11	67798363	T	+CAGGGCGCCGGCC	ENST00000531228	ENSG00000110717	67798084	67804111	ENSP00000433054	NDUFS8	1	-	-	-	5'_UTR	rs200951888	-	-	-	-	-	-	het	15
13	11	67798363	T	C	ENST00000525419	ENSG00000110717	67798084	67804111	ENSP00000433521	NDUFS8	1	-	-	-	5'_UTR	rs4147777	-	-	-	-	-	-	het	11
14	11	67798363	T	C	ENST00000526339	ENSG00000110717	67798084	67804111	ENSP00000436287	NDUFS8	1	-	-	-	+19bp 5'_splice_site	rs4147777	-	-	-	-	-	-	het	11
15	11	67798363	T	C	ENST00000531228	ENSG00000110717	67798084	67804111	ENSP00000433054	NDUFS8	1	-	-	-	5'_UTR	rs4147777	-	-	-	-	-	-	het	11
16	11	67798381	G	A	ENST00000525419	ENSG00000110717	67798084	67804111	ENSP00000433521	NDUFS8	1	-	c.8G>A	p.R3H	non-syn	rs77155493	0.1107	-	-	-	-	-	het	102
17	11	67798381	G	A	ENST00000525419	ENSG00000110717	67798084	67804111	ENSP00000433521	NDUFS8	1	-	c.8G>A	p.R3H	non-syn	rs77155493	0.1107	-	-	-	-	-	hom	5
18	11	67798381	G	A	ENST00000531228	ENSG00000110717	67798084	67804111	ENSP00000433054	NDUFS8	1	-	c.8G>A	p.R3H	non-syn	rs77155493	0.1107	-	-	-	-	-	het	102
19	11	67798381	G	A	ENST00000531228	ENSG00000110717	67798084	67804111	ENSP00000433054	NDUFS8	1	-	c.8G>A	p.R3H	non-syn	rs77155493	0.1107	-	-	-	-	-	hom	5
20	11	67798382	C	T	ENST00000525419	ENSG00000110717	67798084	67804111	ENSP00000433521	NDUFS8	1	-	c.9C>T	p.R3R	syn	rs7949541	0.0264	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding NDUFS8 11:67798084..67804111 region Gbrowse