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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 NDUFB9:

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
ENSG00000147684	NDUFB9	1	6	8	ENSG00000147684	ENST00000276689	ENSP00000276689	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa [Source:HGNC Symbol;Acc:7704]	8	125551344	125580751	1	q24.13	125551344	125562220	NDUFB9	NDUFB9-001	HGNC Symbol	HGNC transcript name	7	45.62	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	4715	7704	NDUFB9	NM_001278646	27523

MSeqDR Master Exome Data Set M1: 102 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	8	125551364	A	G	ENST00000276689	ENSG00000147684	125551344	125580751	ENSP00000276689	NDUFB9	1	NDUB9_HUMAN	-	-	5'_UTR	rs34681068	0.1043	G=444/A=2738;G=48/A=1336;G=492/A=4074	-	-	-	-	hom	16
2	8	125551364	A	G	ENST00000276689	ENSG00000147684	125551344	125580751	ENSP00000276689	NDUFB9	1	NDUB9_HUMAN	-	-	5'_UTR	rs34681068	0.1043	G=444/A=2738;G=48/A=1336;G=492/A=4074	-	-	-	-	het	203
3	8	125551365	G	A	ENST00000276689	ENSG00000147684	125551344	125580751	ENSP00000276689	NDUFB9	1	NDUB9_HUMAN	-	-	5'_UTR	rs186855962	0.007	A=0/G=3182;A=12/G=1372;A=12/G=4554	-	-	-	-	het	3
4	8	125551385	A	G	ENST00000276689	ENSG00000147684	125551344	125580751	ENSP00000276689	NDUFB9	1	NDUB9_HUMAN	-	-	5'_UTR	rs140365193	0.0064	G=56/A=8544;G=11/A=4395;G=67/A=12939	-	-	-	-	het	13
5	8	125551385	A	G	ENST00000517367	ENSG00000147684	125551344	125580751	ENSP00000430322	NDUFB9	1	-	-	-	5'_UTR	rs140365193	0.0064	G=56/A=8544;G=11/A=4395;G=67/A=12939	-	-	-	-	het	13
6	8	125551385	A	G	ENST00000518008	ENSG00000147684	125551344	125580751	ENSP00000428282	NDUFB9	1	-	-	-	5'_UTR	rs140365193	0.0064	G=56/A=8544;G=11/A=4395;G=67/A=12939	-	-	-	-	het	13
7	8	125551385	A	G	ENST00000522532	ENSG00000147684	125551344	125580751	ENSP00000431115	NDUFB9	1	-	-	-	5'_UTR	rs140365193	0.0064	G=56/A=8544;G=11/A=4395;G=67/A=12939	-	-	-	-	het	13
8	8	125551408	C	T	ENST00000276689	ENSG00000147684	125551344	125580751	ENSP00000276689	NDUFB9	1	NDUB9_HUMAN	-	-	5'_UTR	NA	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	-	-	-	-	het	1
9	8	125551408	C	T	ENST00000517367	ENSG00000147684	125551344	125580751	ENSP00000430322	NDUFB9	1	-	-	-	5'_UTR	NA	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	-	-	-	-	het	1
10	8	125551408	C	T	ENST00000518008	ENSG00000147684	125551344	125580751	ENSP00000428282	NDUFB9	1	-	-	-	5'_UTR	NA	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	-	-	-	-	het	1
11	8	125551408	C	T	ENST00000522532	ENSG00000147684	125551344	125580751	ENSP00000431115	NDUFB9	1	-	-	-	5'_UTR	NA	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	-	-	-	-	het	1
12	8	125551410	G	T	ENST00000276689	ENSG00000147684	125551344	125580751	ENSP00000276689	NDUFB9	1	NDUB9_HUMAN	-	-	5'_UTR	rs199613912	-	T=0/G=8600;T=20/G=4386;T=20/G=12986	-	-	-	-	het	6
13	8	125551410	G	T	ENST00000517367	ENSG00000147684	125551344	125580751	ENSP00000430322	NDUFB9	1	-	-	-	5'_UTR	rs199613912	-	T=0/G=8600;T=20/G=4386;T=20/G=12986	-	-	-	-	het	6
14	8	125551410	G	T	ENST00000518008	ENSG00000147684	125551344	125580751	ENSP00000428282	NDUFB9	1	-	-	-	5'_UTR	rs199613912	-	T=0/G=8600;T=20/G=4386;T=20/G=12986	-	-	-	-	het	6
15	8	125551410	G	T	ENST00000522532	ENSG00000147684	125551344	125580751	ENSP00000431115	NDUFB9	1	-	-	-	5'_UTR	rs199613912	-	T=0/G=8600;T=20/G=4386;T=20/G=12986	-	-	-	-	het	6
16	8	125551423	C	T	ENST00000276689	ENSG00000147684	125551344	125580751	ENSP00000276689	NDUFB9	1	NDUB9_HUMAN	-	-	5'_UTR	NA	-	T=4/C=8596;T=0/C=4406;T=4/C=13002	-	-	-	-	het	1
17	8	125551423	C	T	ENST00000517367	ENSG00000147684	125551344	125580751	ENSP00000430322	NDUFB9	1	-	-	-	5'_UTR	NA	-	T=4/C=8596;T=0/C=4406;T=4/C=13002	-	-	-	-	het	1
18	8	125551423	C	T	ENST00000518008	ENSG00000147684	125551344	125580751	ENSP00000428282	NDUFB9	1	-	-	-	5'_UTR	NA	-	T=4/C=8596;T=0/C=4406;T=4/C=13002	-	-	-	-	het	1
19	8	125551423	C	T	ENST00000522532	ENSG00000147684	125551344	125580751	ENSP00000431115	NDUFB9	1	-	-	-	5'_UTR	NA	-	T=4/C=8596;T=0/C=4406;T=4/C=13002	-	-	-	-	het	1
20	8	125551451	C	T	ENST00000276689	ENSG00000147684	125551344	125580751	ENSP00000276689	NDUFB9	1	NDUB9_HUMAN	c.24C>T	p.P8P	syn	rs147044660	0.0034	T=17/C=8583;T=14/C=4392;T=31/C=12975	lod=314:584	-	-	-	het	5

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Transcripts and variants in the surrounding NDUFB9 8:125551344..125580751 region Gbrowse