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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 ENSG00000023228:

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
ENSG00000023228	NDUFS1	1	134	40	ENSG00000023228	ENST00000233190	ENSP00000233190	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) [Source:HGNC Symbol;Acc:7707]	2	206979541	207024327	-1	q33.3	206979541	207024327	NDUFS1	NDUFS1-001	HGNC Symbol	HGNC transcript name	10	40.81	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	4719	7707	NDUFS1	NM_005006	27508

MSeqDR Master Exome Data Set M1: 398 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	2	206986418	T	C	ENST00000233190	ENSG00000023228	206979541	207024327	ENSP00000233190	NDUFS1	-1	NDUS1_HUMAN	-	-	3'_UTR	rs4675589	0.5253	-	-	-	-	-	het	235
2	2	206986418	T	C	ENST00000233190	ENSG00000023228	206979541	207024327	ENSP00000233190	NDUFS1	-1	NDUS1_HUMAN	-	-	3'_UTR	rs4675589	0.5253	-	-	-	-	-	hom	265
3	2	206986422	C	T	ENST00000233190	ENSG00000023228	206979541	207024327	ENSP00000233190	NDUFS1	-1	NDUS1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
4	2	206986465	C	T	ENST00000233190	ENSG00000023228	206979541	207024327	ENSP00000233190	NDUFS1	-1	NDUS1_HUMAN	-	-	3'_UTR	rs145520805	0.00594	-	-	-	-	-	het	6
5	2	206986476	C	T	ENST00000233190	ENSG00000023228	206979541	207024327	ENSP00000233190	NDUFS1	-1	NDUS1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
6	2	206986483	G	C	ENST00000233190	ENSG00000023228	206979541	207024327	ENSP00000233190	NDUFS1	-1	NDUS1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
7	2	206986628	T	C	ENST00000233190	ENSG00000023228	206979541	207024327	ENSP00000233190	NDUFS1	-1	NDUS1_HUMAN	-	-	3'_UTR	rs1564163	0.51266	-	-	-	-	-	het	311
8	2	206986628	T	C	ENST00000233190	ENSG00000023228	206979541	207024327	ENSP00000233190	NDUFS1	-1	NDUS1_HUMAN	-	-	3'_UTR	rs1564163	0.51266	-	-	-	-	-	hom	195
9	2	206986762	G	A	ENST00000233190	ENSG00000023228	206979541	207024327	ENSP00000233190	NDUFS1	-1	NDUS1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
10	2	206986971	T	G	ENST00000233190	ENSG00000023228	206979541	207024327	ENSP00000233190	NDUFS1	-1	NDUS1_HUMAN	-	-	3'_UTR	rs191367370	0.00096	-	-	-	-	-	het	2
11	2	206986974	C	A	ENST00000233190	ENSG00000023228	206979541	207024327	ENSP00000233190	NDUFS1	-1	NDUS1_HUMAN	-	-	3'_UTR	rs182592228	0.00096	-	-	-	-	-	het	2
12	2	206987015	A	G	ENST00000233190	ENSG00000023228	206979541	207024327	ENSP00000233190	NDUFS1	-1	NDUS1_HUMAN	-	-	3'_UTR	rs1053517	0.50734	-	-	-	-	-	het	267
13	2	206987015	A	G	ENST00000233190	ENSG00000023228	206979541	207024327	ENSP00000233190	NDUFS1	-1	NDUS1_HUMAN	-	-	3'_UTR	rs1053517	0.50734	-	-	-	-	-	hom	180
14	2	206987164	C	T	ENST00000233190	ENSG00000023228	206979541	207024327	ENSP00000233190	NDUFS1	-1	NDUS1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
15	2	206987326	C	-T	ENST00000233190	ENSG00000023228	206979541	207024327	ENSP00000233190	NDUFS1	-1	NDUS1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
16	2	206987349	A	C	ENST00000233190	ENSG00000023228	206979541	207024327	ENSP00000233190	NDUFS1	-1	NDUS1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
17	2	206987353	C	-AA	ENST00000233190	ENSG00000023228	206979541	207024327	ENSP00000233190	NDUFS1	-1	NDUS1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
18	2	206987353	C	-A	ENST00000233190	ENSG00000023228	206979541	207024327	ENSP00000233190	NDUFS1	-1	NDUS1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
19	2	206987353	C	+A	ENST00000233190	ENSG00000023228	206979541	207024327	ENSP00000233190	NDUFS1	-1	NDUS1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
20	2	206987363	A	G	ENST00000233190	ENSG00000023228	206979541	207024327	ENSP00000233190	NDUFS1	-1	NDUS1_HUMAN	-	-	3'_UTR	rs76005083	0.4917	-	-	-	-	-	het	44

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Transcripts and variants in the surrounding NDUFS1 2:206979541..207024327 region Gbrowse