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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 NDUFAF2:

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
ENSG00000164182	NDUFAF2	1	31	12	ENSG00000164182	ENST00000296597	ENSP00000296597	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 [Source:HGNC Symbol;Acc:28086]	5	60240956	60448853	1	q12.1	60240956	60448853	NDUFAF2	NDUFAF2-001	HGNC Symbol	HGNC transcript name	4	36.3	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	91942	28086	NDUFAF2	NM_174889	27527

MSeqDR Master Exome Data Set M1: 48 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	5	60240968	G	C	ENST00000296597	ENSG00000164182	60240956	60448853	ENSP00000296597	NDUFAF2	1	MIMIT_HUMAN	-	-	5'_UTR	rs4647037	0.0355	-	-	-	-	-	het	5
2	5	60240968	G	C	ENST00000296597	ENSG00000164182	60240956	60448853	ENSP00000296597	NDUFAF2	1	MIMIT_HUMAN	-	-	5'_UTR	rs4647037	0.0355	-	-	-	-	-	hom	1
3	5	60240986	A	G	ENST00000296597	ENSG00000164182	60240956	60448853	ENSP00000296597	NDUFAF2	1	MIMIT_HUMAN	-	-	5'_UTR	rs158922	0.8479	-	-	-	-	-	het	365
4	5	60240986	A	G	ENST00000296597	ENSG00000164182	60240956	60448853	ENSP00000296597	NDUFAF2	1	MIMIT_HUMAN	-	-	5'_UTR	rs158922	0.8479	-	-	-	-	-	hom	418
5	5	60240992	C	T	ENST00000296597	ENSG00000164182	60240956	60448853	ENSP00000296597	NDUFAF2	1	MIMIT_HUMAN	-	-	5'_UTR	rs4647036	0.1487	-	-	-	-	-	het	12
6	5	60240992	C	T	ENST00000296597	ENSG00000164182	60240956	60448853	ENSP00000296597	NDUFAF2	1	MIMIT_HUMAN	-	-	5'_UTR	rs4647036	0.1487	-	-	-	-	-	hom	2
7	5	60240996	T	-C	ENST00000296597	ENSG00000164182	60240956	60448853	ENSP00000296597	NDUFAF2	1	MIMIT_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
8	5	60241050	G	A	ENST00000296597	ENSG00000164182	60240956	60448853	ENSP00000296597	NDUFAF2	1	MIMIT_HUMAN	-	-	5'_UTR	rs200299226	-	-	-	-	-	-	het	5
9	5	60241050	G	A	ENST00000511107	ENSG00000164182	60240956	60448853	ENSP00000423377	NDUFAF2	1	-	-	-	5'_UTR	rs200299226	-	-	-	-	-	-	het	5
10	5	60241142	G	A	ENST00000296597	ENSG00000164182	60240956	60448853	ENSP00000296597	NDUFAF2	1	MIMIT_HUMAN	c.60G>A	p.K20K	syn	rs158921	0.8128	-	lod=56:399	-	-	-	het	342
11	5	60241142	G	A	ENST00000296597	ENSG00000164182	60240956	60448853	ENSP00000296597	NDUFAF2	1	MIMIT_HUMAN	c.60G>A	p.K20K	syn	rs158921	0.8128	-	lod=56:399	-	-	-	hom	336
12	5	60241142	G	A	ENST00000511107	ENSG00000164182	60240956	60448853	ENSP00000423377	NDUFAF2	1	-	c.60G>A	p.K20K	syn	rs158921	0.8128	-	lod=56:399	-	-	-	het	342
13	5	60241142	G	A	ENST00000511107	ENSG00000164182	60240956	60448853	ENSP00000423377	NDUFAF2	1	-	c.60G>A	p.K20K	syn	rs158921	0.8128	-	lod=56:399	-	-	-	hom	336
14	5	60241182	T	C	ENST00000296597	ENSG00000164182	60240956	60448853	ENSP00000296597	NDUFAF2	1	MIMIT_HUMAN	c.100T>C	p.Y34H	non-syn	NA	-	-	lod=44:374	TOLERATED	B	-	het	2
15	5	60241182	T	C	ENST00000502658	ENSG00000164182	60240956	60448853	ENSP00000426149	NDUFAF2	1	-	c.21T>C	p.T7T	syn	NA	-	-	lod=44:374	TOLERATED	B	-	het	2
16	5	60241182	T	C	ENST00000511107	ENSG00000164182	60240956	60448853	ENSP00000423377	NDUFAF2	1	-	c.100T>C	p.Y34H	non-syn	NA	-	-	lod=44:374	TOLERATED	B	-	het	2
17	5	60241241	G	C	ENST00000511107	ENSG00000164182	60240956	60448853	ENSP00000423377	NDUFAF2	1	-	c.159G>C	p.W53C	non-syn	rs77149936	0.0435	C=307/G=8293;C=31/G=4375;C=338/G=12668	-	-	-	-	het	61
18	5	60241241	G	C	ENST00000511107	ENSG00000164182	60240956	60448853	ENSP00000423377	NDUFAF2	1	-	c.159G>C	p.W53C	non-syn	rs77149936	0.0435	C=307/G=8293;C=31/G=4375;C=338/G=12668	-	-	-	-	hom	3
19	5	60241268	G	A	ENST00000511107	ENSG00000164182	60240956	60448853	ENSP00000423377	NDUFAF2	1	-	-	-	+13bp 5'_splice_site	rs158920	0.15264	-	-	-	-	-	hom	23
20	5	60241268	G	A	ENST00000511107	ENSG00000164182	60240956	60448853	ENSP00000423377	NDUFAF2	1	-	-	-	+13bp 5'_splice_site	rs158920	0.15264	-	-	-	-	-	het	226

** A friendly reminder: guest user can access up to first 20 entries per gene from MSeqDR Master Exome Data Set M1. To gain access to the full power of MSeqDR, please login, or register, then request access to data.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
**click here to view variant details for this gene in selected data set**,
and click "Export" button to save as csv.

Transcripts and variants in the surrounding NDUFAF2 5:60240956..60448853 region Gbrowse