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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 NDUFV1:

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
ENSG00000167792	NDUFV1	1	88	33	ENSG00000167792	ENST00000525086		NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa [Source:HGNC Symbol;Acc:7716]	11	67374323	67380006	1	q13.2	67374429	67377098	NDUFV1	NDUFV1-029	HGNC Symbol	HGNC transcript name	28	55.96	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	4723	7716	NDUFV1		27504

MSeqDR Master Exome Data Set M1: 393 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	67374365	T	C	ENST00000322776	ENSG00000167792	67374323	67380006	ENSP00000322450	NDUFV1	1	NDUV1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	5
2	11	67374410	G	A	ENST00000322776	ENSG00000167792	67374323	67380006	ENSP00000322450	NDUFV1	1	NDUV1_HUMAN	-	-	5'_UTR	rs73490568	0.128	-	-	-	-	-	het	13
3	11	67374410	G	A	ENST00000528328	ENSG00000167792	67374323	67380006	ENSP00000436906	NDUFV1	1	-	-	-	5'_UTR	rs73490568	0.128	-	-	-	-	-	het	13
4	11	67374410	G	A	ENST00000532244	ENSG00000167792	67374323	67380006	ENSP00000435202	NDUFV1	1	-	-	-	5'_UTR	rs73490568	0.128	-	-	-	-	-	het	13
5	11	67374410	G	A	ENST00000532303	ENSG00000167792	67374323	67380006	ENSP00000432015	NDUFV1	1	-	-	-	5'_UTR	rs73490568	0.128	-	-	-	-	-	het	13
6	11	67374415	A	G	ENST00000322776	ENSG00000167792	67374323	67380006	ENSP00000322450	NDUFV1	1	NDUV1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
7	11	67374415	A	G	ENST00000415352	ENSG00000167792	67374323	67380006	ENSP00000395368	NDUFV1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
8	11	67374415	A	G	ENST00000524838	ENSG00000167792	67374323	67380006	-	NDUFV1	1	-	c.1A>G	p.S1G	non-syn	NA	-	-	-	-	-	-	het	2
9	11	67374415	A	G	ENST00000524876	ENSG00000167792	67374323	67380006	-	NDUFV1	1	-	c.1A>G	p.S1G	non-syn	NA	-	-	-	-	-	-	het	2
10	11	67374415	A	G	ENST00000528328	ENSG00000167792	67374323	67380006	ENSP00000436906	NDUFV1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
11	11	67374415	A	G	ENST00000529927	ENSG00000167792	67374323	67380006	ENSP00000436766	NDUFV1	1	NDUV1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
12	11	67374415	A	G	ENST00000532244	ENSG00000167792	67374323	67380006	ENSP00000435202	NDUFV1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
13	11	67374415	A	G	ENST00000532303	ENSG00000167792	67374323	67380006	ENSP00000432015	NDUFV1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
14	11	67374415	A	G	ENST00000532343	ENSG00000167792	67374323	67380006	ENSP00000431751	NDUFV1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
15	11	67374522	T	G	ENST00000322776	ENSG00000167792	67374323	67380006	ENSP00000322450	NDUFV1	1	NDUV1_HUMAN	c.47T>G	p.V16G	non-syn	NA	-	-	lod=131:490	TOLERATED	B	-	het	1
16	11	67374522	T	G	ENST00000415352	ENSG00000167792	67374323	67380006	ENSP00000395368	NDUFV1	1	-	c.47T>G	p.V16G	non-syn	NA	-	-	lod=131:490	TOLERATED	B	-	het	1
17	11	67374522	T	G	ENST00000524838	ENSG00000167792	67374323	67380006	-	NDUFV1	1	-	c.108T>G	p.G36G	syn	NA	-	-	lod=131:490	TOLERATED	B	-	het	1
18	11	67374522	T	G	ENST00000524876	ENSG00000167792	67374323	67380006	-	NDUFV1	1	-	c.108T>G	p.G36G	syn	NA	-	-	lod=131:490	TOLERATED	B	-	het	1
19	11	67374522	T	G	ENST00000525086	ENSG00000167792	67374323	67380006	-	NDUFV1	1	-	c.94T>G	p.Y32D	non-syn	NA	-	-	lod=131:490	TOLERATED	B	-	het	1
20	11	67374522	T	G	ENST00000526138	ENSG00000167792	67374323	67380006	-	NDUFV1	1	-	c.91T>G	p.Y31D	non-syn	NA	-	-	lod=131:490	TOLERATED	B	-	het	1

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Transcripts and variants in the surrounding NDUFV1 11:67374323..67380006 region Gbrowse