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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 MT-ND4L:

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
ENSG00000212907	MT-ND4L	1	66	2	ENSG00000212907	ENST00000361335	ENSP00000354728	mitochondrially encoded NADH dehydrogenase 4L [Source:HGNC Symbol;Acc:7460]	M	10470	10766	1		10470	10766	MT-ND4L	MT-ND4L-201	HGNC Symbol	HGNC transcript name	1	43.1	protein_coding	protein_coding	insdc	insdc	KNOWN	KNOWN	4539	7460	MT-ND4L		100965601

MSeqDR Master Exome Data Set M1: 28 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	M	10493	T	C	ENST00000361335	ENSG00000212907	10470	10766	ENSP00000354728	MT-ND4L	1	NU4LM_HUMAN	c.24T>C	p.I8I	syn	NA	-	-	-	-	-	-	het	1
2	M	10499	A	G	ENST00000361335	ENSG00000212907	10470	10766	ENSP00000354728	MT-ND4L	1	NU4LM_HUMAN	c.30A>G	p.L10L	syn	NA	-	-	-	-	-	-	hom	4
3	M	10506	A	G	ENST00000361335	ENSG00000212907	10470	10766	ENSP00000354728	MT-ND4L	1	NU4LM_HUMAN	c.37A>G	p.T13A	non-syn	NA	-	-	-	-	-	-	hom	6
4	M	10506	A	G	ENST00000361335	ENSG00000212907	10470	10766	ENSP00000354728	MT-ND4L	1	NU4LM_HUMAN	c.37A>G	p.T13A	non-syn	NA	-	-	-	-	-	-	het	1
5	M	10535	T	C	ENST00000361335	ENSG00000212907	10470	10766	ENSP00000354728	MT-ND4L	1	NU4LM_HUMAN	c.66T>C	p.T22T	syn	NA	-	-	-	-	-	-	hom	3
6	M	10550	A	G	ENST00000361335	ENSG00000212907	10470	10766	ENSP00000354728	MT-ND4L	1	NU4LM_HUMAN	c.81A>G	p.M27M	syn	rs112634840	-	-	lod=45:376	-	-	-	hom	55
7	M	10550	A	G	ENST00000361335	ENSG00000212907	10470	10766	ENSP00000354728	MT-ND4L	1	NU4LM_HUMAN	c.81A>G	p.M27M	syn	rs112634840	-	-	lod=45:376	-	-	-	het	1
8	M	10586	G	A	ENST00000361335	ENSG00000212907	10470	10766	ENSP00000354728	MT-ND4L	1	NU4LM_HUMAN	c.117G>A	p.S39S	syn	rs111896040	-	-	-	-	-	-	hom	8
9	M	10589	G	A	ENST00000361335	ENSG00000212907	10470	10766	ENSP00000354728	MT-ND4L	1	NU4LM_HUMAN	c.120G>A	p.L40L	syn	rs2853487	-	-	-	-	-	-	hom	13
10	M	10609	T	C	ENST00000361335	ENSG00000212907	10470	10766	ENSP00000354728	MT-ND4L	1	NU4LM_HUMAN	c.140T>C	p.M47T	non-syn	NA	-	-	-	-	-	-	hom	8
11	M	10610	A	G	ENST00000361335	ENSG00000212907	10470	10766	ENSP00000354728	MT-ND4L	1	NU4LM_HUMAN	c.141A>G	p.M47M	syn	NA	-	-	-	-	-	-	hom	3
12	M	10632	T	C	ENST00000361335	ENSG00000212907	10470	10766	ENSP00000354728	MT-ND4L	1	NU4LM_HUMAN	c.163T>C	p.L55L	syn	NA	-	-	-	-	-	-	hom	1
13	M	10646	G	A	ENST00000361335	ENSG00000212907	10470	10766	ENSP00000354728	MT-ND4L	1	NU4LM_HUMAN	c.177G>A	p.V59V	syn	rs75100130	-	-	-	-	-	-	hom	4
14	M	10655	C	T	ENST00000361335	ENSG00000212907	10470	10766	ENSP00000354728	MT-ND4L	1	NU4LM_HUMAN	c.186C>T	p.A62A	syn	NA	-	-	-	-	-	-	hom	1
15	M	10658	A	G	ENST00000361335	ENSG00000212907	10470	10766	ENSP00000354728	MT-ND4L	1	NU4LM_HUMAN	c.189A>G	p.M63M	syn	NA	-	-	-	-	-	-	hom	1
16	M	10664	C	T	ENST00000361335	ENSG00000212907	10470	10766	ENSP00000354728	MT-ND4L	1	NU4LM_HUMAN	c.195C>T	p.V65V	syn	rs2854121	-	-	lod=25:313	-	-	-	het	1
17	M	10664	C	T	ENST00000361335	ENSG00000212907	10470	10766	ENSP00000354728	MT-ND4L	1	NU4LM_HUMAN	c.195C>T	p.V65V	syn	rs2854121	-	-	lod=25:313	-	-	-	hom	8
18	M	10667	T	C	ENST00000361335	ENSG00000212907	10470	10766	ENSP00000354728	MT-ND4L	1	NU4LM_HUMAN	c.198T>C	p.F66F	syn	NA	-	-	lod=24:309	-	-	-	hom	4
19	M	10679	A	G	ENST00000361335	ENSG00000212907	10470	10766	ENSP00000354728	MT-ND4L	1	NU4LM_HUMAN	c.210A>G	p.E70E	syn	NA	-	-	lod=37:355	-	-	-	hom	1
20	M	10685	G	A	ENST00000361335	ENSG00000212907	10470	10766	ENSP00000354728	MT-ND4L	1	NU4LM_HUMAN	c.216G>A	p.A72A	syn	rs8180379	-	-	lod=15:259	-	-	-	hom	8

** 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,
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Transcripts and variants in the surrounding MT-ND4L M:10470..10766 region Gbrowse