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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 SDHB:

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
ENSG00000117118	SDHB	1	13	106	ENSG00000117118	ENST00000375499	ENSP00000364649	succinate dehydrogenase complex, subunit B, iron sulfur (Ip) [Source:HGNC Symbol;Acc:10681]	1	17345217	17380665	-1	p36.13	17345217	17380665	SDHB	SDHB-001	HGNC Symbol	HGNC transcript name	8	43.51	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	6390	10681	SDHB	NM_003000	27511

MSeqDR Master Exome Data Set M1: 83 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	1	17345233	A	G	ENST00000375499	ENSG00000117118	17345217	17380665	ENSP00000364649	SDHB	-1	DHSB_HUMAN	-	-	3'_UTR	rs201524374	-	-	lod=23:304	-	-	-	het	3
2	1	17349367	C	+CA	ENST00000485092	ENSG00000117118	17345217	17380665	-	SDHB	-1	-	c.164_165insTG	p.W55NA	non-syn	rs201222973	-	-	-	-	-	-	het	5
3	1	17354257	T	C	ENST00000375499	ENSG00000117118	17345217	17380665	ENSP00000364649	SDHB	-1	DHSB_HUMAN	c.527A>G	p.E176G	non-syn	rs201082445	-	-	lod=321:586	DAMAGING	B	-	het	1
4	1	17354257	T	C	ENST00000463045	ENSG00000117118	17345217	17380665	-	SDHB	-1	-	c.689A>G	p.E230G	non-syn	rs201082445	-	-	lod=321:586	DAMAGING	B	-	het	1
5	1	17354257	T	C	ENST00000475506	ENSG00000117118	17345217	17380665	-	SDHB	-1	-	c.444A>G	p.R148R	syn	rs201082445	-	-	lod=321:586	DAMAGING	B	-	het	1
6	1	17354257	T	C	ENST00000485515	ENSG00000117118	17345217	17380665	-	SDHB	-1	-	c.461A>G	p.E154G	non-syn	rs201082445	-	-	lod=321:586	DAMAGING	B	-	het	1
7	1	17354257	T	C	ENST00000491274	ENSG00000117118	17345217	17380665	-	SDHB	-1	-	c.534A>G	p.R178R	syn	rs201082445	-	-	lod=321:586	DAMAGING	B	-	het	1
8	1	17354297	A	G	ENST00000375499	ENSG00000117118	17345217	17380665	ENSP00000364649	SDHB	-1	DHSB_HUMAN	c.487T>C	p.S163P	non-syn	rs33927012	0.0127	G=112/A=8488;G=12/A=4394;G=124/A=12882	lod=321:586	TOLERATED	B	BMedullary thyroid carcinoma ?	het	17
9	1	17354297	A	G	ENST00000463045	ENSG00000117118	17345217	17380665	-	SDHB	-1	-	c.649T>C	p.S217P	non-syn	rs33927012	0.0127	G=112/A=8488;G=12/A=4394;G=124/A=12882	lod=321:586	TOLERATED	B	BMedullary thyroid carcinoma ?	het	17
10	1	17354297	A	G	ENST00000475506	ENSG00000117118	17345217	17380665	-	SDHB	-1	-	c.404T>C	p.I135T	non-syn	rs33927012	0.0127	G=112/A=8488;G=12/A=4394;G=124/A=12882	lod=321:586	TOLERATED	B	BMedullary thyroid carcinoma ?	het	17
11	1	17354297	A	G	ENST00000485515	ENSG00000117118	17345217	17380665	-	SDHB	-1	-	c.421T>C	p.S141P	non-syn	rs33927012	0.0127	G=112/A=8488;G=12/A=4394;G=124/A=12882	lod=321:586	TOLERATED	B	BMedullary thyroid carcinoma ?	het	17
12	1	17354297	A	G	ENST00000491274	ENSG00000117118	17345217	17380665	-	SDHB	-1	-	c.494T>C	p.I165T	non-syn	rs33927012	0.0127	G=112/A=8488;G=12/A=4394;G=124/A=12882	lod=321:586	TOLERATED	B	BMedullary thyroid carcinoma ?	het	17
13	1	17354343	A	G	ENST00000375499	ENSG00000117118	17345217	17380665	ENSP00000364649	SDHB	-1	DHSB_HUMAN	c.441T>C	p.Y147Y	syn	NA	-	-	lod=147:503	-	-	-	het	1
14	1	17354343	A	G	ENST00000463045	ENSG00000117118	17345217	17380665	-	SDHB	-1	-	c.603T>C	p.Y201Y	syn	NA	-	-	lod=147:503	-	-	-	het	1
15	1	17354343	A	G	ENST00000475506	ENSG00000117118	17345217	17380665	-	SDHB	-1	-	c.358T>C	p.C120R	non-syn	NA	-	-	lod=147:503	-	-	-	het	1
16	1	17354343	A	G	ENST00000485515	ENSG00000117118	17345217	17380665	-	SDHB	-1	-	c.375T>C	p.Y125Y	syn	NA	-	-	lod=147:503	-	-	-	het	1
17	1	17354343	A	G	ENST00000491274	ENSG00000117118	17345217	17380665	-	SDHB	-1	-	c.448T>C	p.C150R	non-syn	NA	-	-	lod=147:503	-	-	-	het	1
18	1	17354371	G	A	ENST00000375499	ENSG00000117118	17345217	17380665	ENSP00000364649	SDHB	-1	DHSB_HUMAN	-	-	-11bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
19	1	17354371	G	A	ENST00000463045	ENSG00000117118	17345217	17380665	-	SDHB	-1	-	-	-	-11bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
20	1	17354371	G	A	ENST00000475506	ENSG00000117118	17345217	17380665	-	SDHB	-1	-	-	-	-11bp 3'_splice_site	NA	-	-	-	-	-	-	het	1

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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding SDHB 1:17345217..17380665 region Gbrowse