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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 NDUFA1:

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
ENSG00000125356	NDUFA1	1	7	6	ENSG00000125356	ENST00000371437	ENSP00000360492	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa [Source:HGNC Symbol;Acc:7683]	X	119005450	119010625	1	q24	119005450	119010625	NDUFA1	NDUFA1-001	HGNC Symbol	HGNC transcript name	1	43.57	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	4694	7683	NDUFA1	NM_004541	27516

MSeqDR Master Exome Data Set M1: 14 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	X	119005587	T	C	ENST00000371437	ENSG00000125356	119005450	119010625	ENSP00000360492	NDUFA1	1	NDUA1_HUMAN	-	-	5'_UTR	rs1800823	0.093	C=344/T=6262;C=501/T=3291;C=845/T=9553	-	-	-	-	hom	37
2	X	119005587	T	C	ENST00000371437	ENSG00000125356	119005450	119010625	ENSP00000360492	NDUFA1	1	NDUA1_HUMAN	-	-	5'_UTR	rs1800823	0.093	C=344/T=6262;C=501/T=3291;C=845/T=9553	-	-	-	-	het	60
3	X	119005698	C	G	ENST00000371437	ENSG00000125356	119005450	119010625	ENSP00000360492	NDUFA1	1	NDUA1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	4
4	X	119005705	C	G	ENST00000371437	ENSG00000125356	119005450	119010625	ENSP00000360492	NDUFA1	1	NDUA1_HUMAN	-	-	5'_UTR	rs708463	0.8935	-	-	-	-	-	het	202
5	X	119005705	C	G	ENST00000371437	ENSG00000125356	119005450	119010625	ENSP00000360492	NDUFA1	1	NDUA1_HUMAN	-	-	5'_UTR	rs708463	0.8935	-	-	-	-	-	hom	424
6	X	119005782	G	A	ENST00000371437	ENSG00000125356	119005450	119010625	ENSP00000360492	NDUFA1	1	NDUA1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
7	X	119005782	G	A	ENST00000371437	ENSG00000125356	119005450	119010625	ENSP00000360492	NDUFA1	1	NDUA1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	hom	2
8	X	119005842	A	C	ENST00000371437	ENSG00000125356	119005450	119010625	ENSP00000360492	NDUFA1	1	NDUA1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
9	X	119005968	G	C	ENST00000371437	ENSG00000125356	119005450	119010625	ENSP00000360492	NDUFA1	1	NDUA1_HUMAN	c.94G>C	p.G32R	non-syn	rs1801316	-	C=67/G=6661;C=4/G=3831;C=71/G=10492	lod=36:352	DAMAGING	D	Mitochondrial complex 1 deficiency	hom	2
10	X	119005968	G	C	ENST00000371437	ENSG00000125356	119005450	119010625	ENSP00000360492	NDUFA1	1	NDUA1_HUMAN	c.94G>C	p.G32R	non-syn	rs1801316	-	C=67/G=6661;C=4/G=3831;C=71/G=10492	lod=36:352	DAMAGING	D	Mitochondrial complex 1 deficiency	het	4
11	X	119007303	C	G	ENST00000371437	ENSG00000125356	119005450	119010625	ENSP00000360492	NDUFA1	1	NDUA1_HUMAN	c.139C>G	p.L47V	non-syn	NA	-	-	lod=32:340	TOLERATED	P	-	het	1
12	X	119007305	G	C	ENST00000371437	ENSG00000125356	119005450	119010625	ENSP00000360492	NDUFA1	1	NDUA1_HUMAN	c.141G>C	p.L47L	syn	rs140064980	-	C=10/G=6718;C=2/G=3833;C=12/G=10551	lod=32:340	-	-	-	hom	3
13	X	119007305	G	C	ENST00000371437	ENSG00000125356	119005450	119010625	ENSP00000360492	NDUFA1	1	NDUA1_HUMAN	c.141G>C	p.L47L	syn	rs140064980	-	C=10/G=6718;C=2/G=3833;C=12/G=10551	lod=32:340	-	-	-	het	1
14	X	119010514	T	C	ENST00000371437	ENSG00000125356	119005450	119010625	ENSP00000360492	NDUFA1	1	NDUA1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding NDUFA1 X:119005450..119010625 region Gbrowse