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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 ENSG00000178127:

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
ENSG00000178127	NDUFV2	1	33	4	ENSG00000178127	ENST00000577703	ENSP00000461911	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa [Source:HGNC Symbol;Acc:7717]	18	9102628	9134343	1	p11.22	9102628	9117885	NDUFV2	NDUFV2-009	HGNC Symbol	HGNC transcript name	9	37.35	protein_coding	nonsense_mediated_decay	ensembl_hava	havana	KNOWN	KNOWN	4729	7717	NDUFV2		27512

MSeqDR Master Exome Data Set M1: 71 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	18	9102648	A	T	ENST00000318388	ENSG00000178127	9102628	9134343	ENSP00000327268	NDUFV2	1	NDUV2_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
2	18	9102648	A	T	ENST00000577703	ENSG00000178127	9102628	9134343	ENSP00000461911	NDUFV2	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
3	18	9102649	G	A	ENST00000318388	ENSG00000178127	9102628	9134343	ENSP00000327268	NDUFV2	1	NDUV2_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
4	18	9102649	G	A	ENST00000577703	ENSG00000178127	9102628	9134343	ENSP00000461911	NDUFV2	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
5	18	9102721	A	G	ENST00000318388	ENSG00000178127	9102628	9134343	ENSP00000327268	NDUFV2	1	NDUV2_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
6	18	9102721	A	G	ENST00000497577	ENSG00000178127	9102628	9134343	ENSP00000464504	NDUFV2	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
7	18	9102721	A	G	ENST00000577703	ENSG00000178127	9102628	9134343	ENSP00000461911	NDUFV2	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
8	18	9102729	A	G	ENST00000318388	ENSG00000178127	9102628	9134343	ENSP00000327268	NDUFV2	1	NDUV2_HUMAN	-	-	5'_UTR	NA	-	G=0/A=8366;G=12/A=4260;G=12/A=12626	-	-	-	-	het	1
9	18	9102729	A	G	ENST00000497577	ENSG00000178127	9102628	9134343	ENSP00000464504	NDUFV2	1	-	-	-	5'_UTR	NA	-	G=0/A=8366;G=12/A=4260;G=12/A=12626	-	-	-	-	het	1
10	18	9102729	A	G	ENST00000577703	ENSG00000178127	9102628	9134343	ENSP00000461911	NDUFV2	1	-	-	-	5'_UTR	NA	-	G=0/A=8366;G=12/A=4260;G=12/A=12626	-	-	-	-	het	1
11	18	9102921	G	A	ENST00000577703	ENSG00000178127	9102628	9134343	ENSP00000461911	NDUFV2	1	-	-	-	3'_UTR	NA	-	-	lod=29:329	-	-	-	het	3
12	18	9102921	G	A	ENST00000583375	ENSG00000178127	9102628	9134343	-	NDUFV2	1	-	c.106G>A	p.A36T	non-syn	NA	-	-	lod=29:329	-	-	-	het	3
13	18	9104082	A	G	ENST00000400033	ENSG00000178127	9102628	9134343	ENSP00000382908	NDUFV2	1	-	-	-	5'_UTR	rs75469679	0.0097	-	-	-	-	-	het	6
14	18	9104204	G	+C	ENST00000400033	ENSG00000178127	9102628	9134343	ENSP00000382908	NDUFV2	1	-	c.8_9insC	p.S3NA	non-syn	rs139009723	-	-	-	-	-	-	hom	5
15	18	9104204	G	+C	ENST00000400033	ENSG00000178127	9102628	9134343	ENSP00000382908	NDUFV2	1	-	c.8_9insC	p.S3NA	non-syn	rs139009723	-	-	-	-	-	-	het	121
16	18	9117562	C	T	ENST00000474350	ENSG00000178127	9102628	9134343	-	NDUFV2	1	-	c.178C>T	p.R60C	non-syn	rs1472944	0.64549	-	-	-	-	-	het	3
17	18	9117562	C	T	ENST00000474350	ENSG00000178127	9102628	9134343	-	NDUFV2	1	-	c.178C>T	p.R60C	non-syn	rs1472944	0.64549	-	-	-	-	-	hom	2
18	18	9117562	C	T	ENST00000483511	ENSG00000178127	9102628	9134343	-	NDUFV2	1	-	c.39C>T	p.S13S	syn	rs1472944	0.64549	-	-	-	-	-	het	3
19	18	9117562	C	T	ENST00000483511	ENSG00000178127	9102628	9134343	-	NDUFV2	1	-	c.39C>T	p.S13S	syn	rs1472944	0.64549	-	-	-	-	-	hom	2
20	18	9117867	T	C	ENST00000318388	ENSG00000178127	9102628	9134343	ENSP00000327268	NDUFV2	1	NDUV2_HUMAN	c.86T>C	p.V29A	non-syn	rs906807	0.80561	C=7042/T=1552;C=3352/T=1054;C=10394/T=2606	lod=268:567	-	B	Parkinson disease, susceptibility to, association	hom	696

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Transcripts and variants in the surrounding NDUFV2 18:9102628..9134343 region Gbrowse