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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 ENSG00000174886:

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
ENSG00000174886	NDUFA11	1	30	9	ENSG00000174886	ENST00000418389	ENSP00000389160	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa [Source:HGNC Symbol;Acc:20371]	19	5891287	5904017	-1	p13.3	5891287	5903797	NDUFA11	NDUFA11-001	HGNC Symbol	HGNC transcript name	6	59.05	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	126328	20371	NDUFA11	NM_001193375	27526

MSeqDR Master Exome Data Set M1: 112 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	19	5891746	G	C	ENST00000418389	ENSG00000174886	5891287	5904017	ENSP00000389160	NDUFA11	-1	-	-	-	3'_UTR	rs1678866	0.7255	-	-	-	-	-	hom	19
2	19	5891746	G	C	ENST00000418389	ENSG00000174886	5891287	5904017	ENSP00000389160	NDUFA11	-1	-	-	-	3'_UTR	rs1678866	0.7255	-	-	-	-	-	het	18
3	19	5891927	C	T	ENST00000418389	ENSG00000174886	5891287	5904017	ENSP00000389160	NDUFA11	-1	-	-	-	3'_UTR	rs148752777	0.0141	-	-	-	-	-	het	1
4	19	5892267	G	T	ENST00000418389	ENSG00000174886	5891287	5904017	ENSP00000389160	NDUFA11	-1	-	-	-	3'_UTR	rs74500071	0.1265	-	-	-	-	-	het	144
5	19	5892267	G	T	ENST00000418389	ENSG00000174886	5891287	5904017	ENSP00000389160	NDUFA11	-1	-	-	-	3'_UTR	rs74500071	0.1265	-	-	-	-	-	hom	19
6	19	5892273	C	T	ENST00000418389	ENSG00000174886	5891287	5904017	ENSP00000389160	NDUFA11	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
7	19	5892274	C	G	ENST00000418389	ENSG00000174886	5891287	5904017	ENSP00000389160	NDUFA11	-1	-	-	-	3'_UTR	rs17271904	0.0713	-	-	-	-	-	het	99
8	19	5892274	C	G	ENST00000418389	ENSG00000174886	5891287	5904017	ENSP00000389160	NDUFA11	-1	-	-	-	3'_UTR	rs17271904	0.0713	-	-	-	-	-	hom	10
9	19	5892317	C	T	ENST00000418389	ENSG00000174886	5891287	5904017	ENSP00000389160	NDUFA11	-1	-	-	-	3'_UTR	rs1626918	0.7199	-	-	-	-	-	hom	418
10	19	5892317	C	T	ENST00000418389	ENSG00000174886	5891287	5904017	ENSP00000389160	NDUFA11	-1	-	-	-	3'_UTR	rs1626918	0.7199	-	-	-	-	-	het	372
11	19	5892368	C	G	ENST00000418389	ENSG00000174886	5891287	5904017	ENSP00000389160	NDUFA11	-1	-	-	-	3'_UTR	rs150836816	0.0011	-	-	-	-	-	het	1
12	19	5892382	C	T	ENST00000418389	ENSG00000174886	5891287	5904017	ENSP00000389160	NDUFA11	-1	-	-	-	3'_UTR	rs1678867	0.7552	-	-	-	-	-	het	371
13	19	5892382	C	T	ENST00000418389	ENSG00000174886	5891287	5904017	ENSP00000389160	NDUFA11	-1	-	-	-	3'_UTR	rs1678867	0.7552	-	-	-	-	-	hom	430
14	19	5892402	G	A	ENST00000418389	ENSG00000174886	5891287	5904017	ENSP00000389160	NDUFA11	-1	-	-	-	3'_UTR	rs115670674	0.0071	-	-	-	-	-	het	4
15	19	5892402	G	A	ENST00000418389	ENSG00000174886	5891287	5904017	ENSP00000389160	NDUFA11	-1	-	-	-	3'_UTR	rs115670674	0.0071	-	-	-	-	-	hom	2
16	19	5892433	C	T	ENST00000418389	ENSG00000174886	5891287	5904017	ENSP00000389160	NDUFA11	-1	-	-	-	3'_UTR	rs1627779	0.6648	-	-	-	-	-	hom	133
17	19	5892433	C	T	ENST00000418389	ENSG00000174886	5891287	5904017	ENSP00000389160	NDUFA11	-1	-	-	-	3'_UTR	rs1627779	0.6648	-	-	-	-	-	het	336
18	19	5892434	G	A	ENST00000418389	ENSG00000174886	5891287	5904017	ENSP00000389160	NDUFA11	-1	-	-	-	3'_UTR	rs75682820	0.0122	-	-	-	-	-	het	2
19	19	5892461	G	A	ENST00000418389	ENSG00000174886	5891287	5904017	ENSP00000389160	NDUFA11	-1	-	-	-	3'_UTR	rs77158620	0.0309	-	-	-	-	-	het	29
20	19	5892461	G	A	ENST00000418389	ENSG00000174886	5891287	5904017	ENSP00000389160	NDUFA11	-1	-	-	-	3'_UTR	rs77158620	0.0309	-	-	-	-	-	hom	1

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Transcripts and variants in the surrounding NDUFA11 19:5891287..5904017 region Gbrowse