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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 ENSG00000147123:

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
ENSG00000147123	NDUFB11	1	5	2	ENSG00000147123	ENST00000377811	ENSP00000367042	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa [Source:HGNC Symbol;Acc:20372]	X	47001615	47004903	-1	p11.23	47001615	47004903	NDUFB11	NDUFB11-001	HGNC Symbol	HGNC transcript name	2	52.3	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	54539	20372	NDUFB11	NM_001135998	27516

MSeqDR Master Exome Data Set M1: 17 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	X	47001686	G	A	ENST00000276062	ENSG00000147123	47001615	47004903	ENSP00000276062	NDUFB11	-1	NDUBB_HUMAN	-	-	3'_UTR	rs200655969	-	-	-	-	-	-	het	1
2	X	47001686	G	A	ENST00000377811	ENSG00000147123	47001615	47004903	ENSP00000367042	NDUFB11	-1	NDUBB_HUMAN	-	-	3'_UTR	rs200655969	-	-	-	-	-	-	het	1
3	X	47002101	C	T	ENST00000276062	ENSG00000147123	47001615	47004903	ENSP00000276062	NDUFB11	-1	NDUBB_HUMAN	c.250G>A	p.V84I	non-syn	rs186469464	0.00191	T=1/C=6727;T=0/C=3835;T=1/C=10562	lod=56:399	TOLERATED	B	-	het	1
4	X	47002101	C	T	ENST00000377811	ENSG00000147123	47001615	47004903	ENSP00000367042	NDUFB11	-1	NDUBB_HUMAN	c.250G>A	p.V84I	non-syn	rs186469464	0.00191	T=1/C=6727;T=0/C=3835;T=1/C=10562	lod=56:399	TOLERATED	B	-	het	1
5	X	47003860	C	-CCG	ENST00000276062	ENSG00000147123	47001615	47004903	ENSP00000276062	NDUFB11	-1	NDUBB_HUMAN	-	-	+9bp 5'_splice_site	NA	-	-	-	-	-	-	hom	2
6	X	47003860	C	-CCG	ENST00000377811	ENSG00000147123	47001615	47004903	ENSP00000367042	NDUFB11	-1	NDUBB_HUMAN	-	-	+9bp 5'_splice_site	NA	-	-	-	-	-	-	hom	2
7	X	47003865	C	-TCT	ENST00000276062	ENSG00000147123	47001615	47004903	ENSP00000276062	NDUFB11	-1	NDUBB_HUMAN	-	-	+4bp 5'_splice_site	NA	-	-	lod=70:423	-	-	-	hom	2
8	X	47003865	C	-TCT	ENST00000377811	ENSG00000147123	47001615	47004903	ENSP00000367042	NDUFB11	-1	NDUBB_HUMAN	-	-	+4bp 5'_splice_site	NA	-	-	lod=70:423	-	-	-	hom	2
9	X	47004213	A	G	ENST00000276062	ENSG00000147123	47001615	47004903	ENSP00000276062	NDUFB11	-1	NDUBB_HUMAN	-	-	5'_UTR	rs183970296	0.0123	-	-	-	-	-	het	16
10	X	47004213	A	G	ENST00000276062	ENSG00000147123	47001615	47004903	ENSP00000276062	NDUFB11	-1	NDUBB_HUMAN	-	-	5'_UTR	rs183970296	0.0123	-	-	-	-	-	hom	5
11	X	47004213	A	G	ENST00000377811	ENSG00000147123	47001615	47004903	ENSP00000367042	NDUFB11	-1	NDUBB_HUMAN	-	-	5'_UTR	rs183970296	0.0123	-	-	-	-	-	het	16
12	X	47004213	A	G	ENST00000377811	ENSG00000147123	47001615	47004903	ENSP00000367042	NDUFB11	-1	NDUBB_HUMAN	-	-	5'_UTR	rs183970296	0.0123	-	-	-	-	-	hom	5
13	X	47004755	C	G	ENST00000377811	ENSG00000147123	47001615	47004903	ENSP00000367042	NDUFB11	-1	NDUBB_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
14	X	47004838	C	T	ENST00000377811	ENSG00000147123	47001615	47004903	ENSP00000367042	NDUFB11	-1	NDUBB_HUMAN	-	-	5'_UTR	rs12008422	0.0252	-	lod=210:541	-	-	-	het	1
15	X	47004838	C	T	ENST00000377811	ENSG00000147123	47001615	47004903	ENSP00000367042	NDUFB11	-1	NDUBB_HUMAN	-	-	5'_UTR	rs12008422	0.0252	-	lod=210:541	-	-	-	hom	1
16	X	47004861	T	C	ENST00000377811	ENSG00000147123	47001615	47004903	ENSP00000367042	NDUFB11	-1	NDUBB_HUMAN	-	-	5'_UTR	rs5952419	0.2191	-	lod=210:541	-	-	-	hom	2
17	X	47004861	T	C	ENST00000377811	ENSG00000147123	47001615	47004903	ENSP00000367042	NDUFB11	-1	NDUBB_HUMAN	-	-	5'_UTR	rs5952419	0.2191	-	lod=210:541	-	-	-	het	8

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Transcripts and variants in the surrounding NDUFB11 X:47001615..47004903 region Gbrowse